5628 lines
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Entry
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- *603470 - ARGININOSUCCINATE SYNTHETASE 1; ASS1
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- OMIM
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<p>
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<span class="h4">*603470</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603470">Table View</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000130707;t=ENST00000352480" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=445" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=603470" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000130707;t=ENST00000352480" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000050,NM_054012" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_054012" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=603470" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=04590&isoform_id=04590_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ASS1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/28872,179047,179057,4261815,14328059,16950633,18203822,19482138,20141195,21518642,53759107,119608338,119608339,119608340,119608341,119608342,158259689,189054708,194388046,308219774,957948958,957948960,957948963,957948966" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P00966" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=445" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000130707;t=ENST00000352480" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=ASS1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=ASS1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+445" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/ASS1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:445" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/445" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr9&hgg_gene=ENST00000352480.10&hgg_start=130444707&hgg_end=130501274&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:758" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ass1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603470[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603470[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000130707" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ASS1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ASS1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ASS1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://lovd.bx.psu.edu/home.php?select_db=ASS1" title="Argininosuccinate synthetase 1 (ASS1) database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Argininosuccinate syntheta…</a></div><div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/ASS1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">ASS1 database at LOVD</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ASS1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA162376926" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:758" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0026565.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:88090" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/ASS1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:88090" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/445/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA000194/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=445" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040912-178" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:445" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=ASS1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1149103000<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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603470
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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ARGININOSUCCINATE SYNTHETASE 1; ASS1
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
ASS
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
ARGININOSUCCINATE SYNTHETASE PSEUDOGENES, INCLUDED
|
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</span>
|
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</div>
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ASS1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ASS1</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/9/577?start=-3&limit=10&highlight=577">9q34.11</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:130444707-130501274&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">9:130,444,707-130,501,274</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
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</span>
|
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</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/577?start=-3&limit=10&highlight=577">
|
|
9q34.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Citrullinemia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/215700"> 215700 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
</span>
|
|
</td>
|
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|
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|
</tr>
|
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</tbody>
|
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</table>
|
|
</div>
|
|
</div>
|
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<p>The ASS1 gene encodes argininosuccinate synthetase-1 (<a href="https://enzyme.expasy.org/EC/6.3.4.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 6.3.4.5</a>), a cytosolic urea cycle enzyme mainly expressed in periportal hepatocytes, but also in most other body tissues. The enzyme is a homotetrameric protein composed of 45-kD monomers and is involved in the synthesis of arginine and catalyzes that condensation of citrulline and aspartate to argininosuccinate using ATP (summary by <a href="#12" class="mim-tip-reference" title="Engel, K., Hohne, W., Haberle, J. <strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong> Hum. Mutat. 30: 300-307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>] [<a href="https://doi.org/10.1002/humu.20847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006241">Engel et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Bock, H.-G. O., Su, T.-S., O'Brien, W. E., Beaudet, A. L. <strong>Sequence for human argininosuccinate synthetase cDNA.</strong> Nucleic Acids Res. 11: 6505-6512, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6194510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6194510</a>] [<a href="https://doi.org/10.1093/nar/11.18.6505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6194510">Bock et al. (1983)</a> isolated clones corresponding to the ASS1 gene from a human cDNA library. The deduced 412-residue protein has a molecular mass of 46 kD. <a href="#15" class="mim-tip-reference" title="Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G. <strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong> Hum. Genet. 110: 327-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941481</a>] [<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941481">Haberle et al. (2002)</a> provided a revised sequence for the ASS1 gene. <a href="#12" class="mim-tip-reference" title="Engel, K., Hohne, W., Haberle, J. <strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong> Hum. Mutat. 30: 300-307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>] [<a href="https://doi.org/10.1002/humu.20847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006241">Engel et al. (2009)</a> noted that the enzyme is usually described as having 3 domains: a nucleotide-binding domain, the synthetase domain, and a C-terminal oligomerization domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11941481+6194510+19006241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Dennis, J. A., Healy, P. J., Beaudet, A. L., O'Brien, W. E. <strong>Molecular definition of bovine argininosuccinate synthetase deficiency.</strong> Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2813370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2813370</a>] [<a href="https://doi.org/10.1073/pnas.86.20.7947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2813370">Dennis et al. (1989)</a> cloned and sequenced bovine cDNA for argininosuccinate synthetase and found 96% identity with the deduced human sequence at the amino acid level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2813370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G. <strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong> Hum. Genet. 110: 327-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941481</a>] [<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941481">Haberle et al. (2002)</a> determined that the ASS1 gene contains 16 exons. The start codon is in exon 3 and the stop codon in exon 16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#30" class="mim-tip-reference" title="Rabinovich, S., Adler, L., Yizhak, K., Sarver, A., Silberman, A., Agron, S., Stettner, N., Sun, Q., Brandis, A., Helbling, D., Korman, S., Itzkovitz, S., Dimmock, D., Ulitsky, I., Nagamani, S. C. S., Ruppin, E., Erez, A. <strong>Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.</strong> Nature 527: 379-383, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26560030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26560030</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26560030[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature15529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26560030">Rabinovich et al. (2015)</a> demonstrated that decreased activity of ASS1 in cancers supports proliferation by facilitating pyrimidine synthesis via CAD (carbamoyl-phosphate synthase 2, aspartate transcarbamylase, and dihydroorotase complex; <a href="/entry/114010">114010</a>) activation. The studies were initiated by delineating the consequences of loss of ASS1 activity in humans with 2 types of citrullinemia. <a href="#30" class="mim-tip-reference" title="Rabinovich, S., Adler, L., Yizhak, K., Sarver, A., Silberman, A., Agron, S., Stettner, N., Sun, Q., Brandis, A., Helbling, D., Korman, S., Itzkovitz, S., Dimmock, D., Ulitsky, I., Nagamani, S. C. S., Ruppin, E., Erez, A. <strong>Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.</strong> Nature 527: 379-383, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26560030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26560030</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26560030[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature15529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26560030">Rabinovich et al. (2015)</a> found that in citrullinemia type I (CTLN1; <a href="/entry/215700">215700</a>), which is caused by deficiency of ASS1, there is increased pyrimidine synthesis and proliferation compared with citrullinemia type II (CTLN2; see <a href="/entry/603471">603471</a>), in which there is decreased substrate availability for ASS1 caused by deficiency of the aspartate transporter citrin (SLC25A13; <a href="/entry/603859">603859</a>). Building on these results, <a href="#30" class="mim-tip-reference" title="Rabinovich, S., Adler, L., Yizhak, K., Sarver, A., Silberman, A., Agron, S., Stettner, N., Sun, Q., Brandis, A., Helbling, D., Korman, S., Itzkovitz, S., Dimmock, D., Ulitsky, I., Nagamani, S. C. S., Ruppin, E., Erez, A. <strong>Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.</strong> Nature 527: 379-383, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26560030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26560030</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26560030[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature15529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26560030">Rabinovich et al. (2015)</a> demonstrated that ASS1 deficiency in cancer increases cytosolic aspartate levels, which increases CAD activation by upregulating its substrate availability and by increasing its phosphorylation by S6K1 (<a href="/entry/608938">608938</a>) through the mammalian target of rapamycin (mTOR; <a href="/entry/601231">601231</a>) pathway. Decreasing CAD activity by blocking citrin, the mTOR signaling, or pyrimidine synthesis decreases proliferation and thus may serve as a therapeutic strategy in multiple cancers where ASS1 is downregulated. <a href="#30" class="mim-tip-reference" title="Rabinovich, S., Adler, L., Yizhak, K., Sarver, A., Silberman, A., Agron, S., Stettner, N., Sun, Q., Brandis, A., Helbling, D., Korman, S., Itzkovitz, S., Dimmock, D., Ulitsky, I., Nagamani, S. C. S., Ruppin, E., Erez, A. <strong>Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.</strong> Nature 527: 379-383, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26560030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26560030</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26560030[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature15529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26560030">Rabinovich et al. (2015)</a> concluded that their results demonstrated that ASS1 downregulation is a novel mechanism supporting cancerous proliferation, and their results provided a metabolic link between the urea cycle enzymes and pyrimidine synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26560030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>From study of human-hamster cell hybrids, <a href="#5" class="mim-tip-reference" title="Carritt, B., Goldfarb, P. S. G., Hooper, M. L., Slack, C. <strong>Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamster-human somatic cell hybrids.</strong> Exp. Cell Res. 106: 71-78, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852520</a>] [<a href="https://doi.org/10.1016/0014-4827(77)90242-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="852520">Carritt et al. (1977)</a> concluded that a gene for argininosuccinate synthetase (ASS) is carried by chromosome 9. In a study of 10 citrullinemic cell lines, no complementation was observed (<a href="#7" class="mim-tip-reference" title="Cathelineau, L., Pham Dinh, D., Briand, P., Kamoun, P. <strong>Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.</strong> Hum. Genet. 57: 282-284, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7250970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7250970</a>] [<a href="https://doi.org/10.1007/BF00278945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7250970">Cathelineau et al., 1981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=852520+7250970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Northrup, H., Lathrop, M., Lu, S.-Y., Daiger, S. P., Beaudet, A. L., O'Brien, W. E. <strong>Multilocus linkage analysis with the human argininosuccinate synthetase gene.</strong> Genomics 5: 442-444, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2575581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2575581</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90007-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2575581">Northrup et al. (1989)</a> identified 3 RFLPs within the ASS gene. They found that the ASS gene is located about 0.04 cM from the ABO blood group locus (<a href="/entry/110300">110300</a>) and is probably centromeric to ABO, between ABO and ABL (<a href="/entry/189980">189980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2575581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Engel, K., Hohne, W., Haberle, J. <strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong> Hum. Mutat. 30: 300-307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>] [<a href="https://doi.org/10.1002/humu.20847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006241">Engel et al. (2009)</a> stated that the functional human ASS1 gene maps to chromosome 9q34.11-q34.12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Jackson, M. J., Surh, L. C., O'Brien, W. E., Beaudet, A. L. <strong>Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2.</strong> Genomics 6: 545-547, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1970331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1970331</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90484-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1970331">Jackson et al. (1990)</a> assigned the murine equivalent to the proximal portion of mouse chromosome 2 by study of recombinant inbred strains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1970331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>PSEUDOGENES</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Engel, K., Hohne, W., Haberle, J. <strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong> Hum. Mutat. 30: 300-307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>] [<a href="https://doi.org/10.1002/humu.20847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006241">Engel et al. (2009)</a> noted that the ASS1 gene has 10 to 14 homologous copies scattered across the human genome. However, only the sequence on chromosome 9q34 seems to encode a functional protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a cDNA probe for argininosuccinate synthetase, <a href="#3" class="mim-tip-reference" title="Beaudet, A. L., Su, T.-S., O'Brien, W. E., D'Eustachio, P., Barker, P. E., Ruddle, F. H. <strong>Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome.</strong> Cell 30: 287-293, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6897015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6897015</a>] [<a href="https://doi.org/10.1016/0092-8674(82)90034-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6897015">Beaudet et al. (1982)</a> identified 10 or more distinct DNA sequences bearing homology. The only functional sequence is presumably that on chromosome 9, which is mutant in classic citrullinemia. Pseudogenes are situated on several autosomes (including ASSP2 on chromosome 6), on the X chromosome (ASSP4 and ASSP5), and perhaps on the Y chromosome (ASSP6). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6897015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Su, T.-S., Nussbaum, R. L., Airhart, S., Ledbetter, D. H., Mohandas, T., O'Brien, W. E., Beaudet, A. L. <strong>Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.</strong> Am. J. Hum. Genet. 36: 954-964, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6093508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6093508</a>]" pmid="6093508">Su et al. (1984)</a> mapped pseudogenes for ASS to 2cen-p25, 3qter-q12, 4qter-q21, 5 (2 loci), 6, 7, 9p13-q11, 9q11-q22, 11q, 12, Xpter-p22, Xq22-q26, and Ycen-q11. They emphasized the usefulness of cloned probes in cytogenetic analysis. Such dispersion may have been mediated by a transposable element. <a href="#27" class="mim-tip-reference" title="McCarrey, J. R., Riggs, A. D. <strong>Determinator-inhibitor pairs as a mechanism for threshold setting in development: a possible function for pseudogenes.</strong> Proc. Nat. Acad. Sci. 83: 679-683, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2418440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2418440</a>] [<a href="https://doi.org/10.1073/pnas.83.3.679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2418440">McCarrey and Riggs (1986)</a> proposed that determinator-inhibitor pairs are a mechanism for threshold setting in development, and that pseudogenes may serve as the source of intracellular inhibitors. They suggested that the system could function at the RNA level by the pairs taking the form of sense-antisense RNAs or at the protein level via a competitive inhibition mechanism. By PCR amplification of specific sequences in somatic cell hybrids, <a href="#34" class="mim-tip-reference" title="Todd, S., Naylor, S. L. <strong>New chromosomal mapping assignments for argininosuccinate synthetase pseudogene 1, interferon-beta-3 gene, and the diazepam binding inhibitor gene.</strong> Somat. Cell Molec. Genet. 18: 381-385, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1440058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1440058</a>] [<a href="https://doi.org/10.1007/BF01235761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1440058">Todd and Naylor (1992)</a> demonstrated that an ASS pseudogene, which they referred to as ASSP1, maps to 6p23-p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2418440+6093508+1440058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Engel, K., Hohne, W., Haberle, J. <strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong> Hum. Mutat. 30: 300-307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>] [<a href="https://doi.org/10.1002/humu.20847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006241">Engel et al. (2009)</a> provided a review of mutations in the ASS1 gene. They listed 87 mutations, including 27 novel mutations, in patients with citrullinemia (<a href="/entry/215700">215700</a>). Mutations are distributed throughout the gene, and it is usually difficult to predict the phenotype based on genotype. However, the G390R mutation (<a href="#0009">603470.0009</a>) in exon 15 was found to be the single most common mutation in patients with the classic phenotype. <a href="#12" class="mim-tip-reference" title="Engel, K., Hohne, W., Haberle, J. <strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong> Hum. Mutat. 30: 300-307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>] [<a href="https://doi.org/10.1002/humu.20847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006241">Engel et al. (2009)</a> also provided a map of the geographic distribution of ASS1 mutations worldwide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Type I, or classic, citrullinemia is caused by deficiency of argininosuccinate synthetase. Kinetically abnormal ASS is demonstrable in the liver, kidney, and cultured fibroblasts. <a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> found that since most patients with citrullinemia express stable mRNA in fibroblasts, the disorder is ideally suited for gene amplification with PCR and sequence analysis of mutant cDNA. They sequenced cDNA from 11 independent chromosomes and identified 9 different mutations: 3 showed absence of exon 5, 6 or 7, and 6 showed point mutations. Five of the 6 involved C:G-to-T:A transitions in CpG dinucleotides, and 3 of these resulted in loss of MspI sites. <a href="#21" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.</strong> J. Biol. Chem. 265: 11361-11367, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2358466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2358466</a>]" pmid="2358466">Kobayashi et al. (1990)</a> further demonstrated the marked heterogeneity of mutations causing citrullinemia: among 13 unrelated patients with the neonatal form of the disease, they found 10 different mutations. Seven were single missense mutations. Two had deletions of single exons (exon 7 and exon 13) and one had a G-to-C substitution in the last position of intron 15 resulting in splicing to a cryptic splice site within exon 16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2358466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the course of studying the molecular nature of mutations in Japanese patients with classic citrullinemia, <a href="#25" class="mim-tip-reference" title="Kobayashi, K., Shaheen, N., Terazono, H., Saheki, T. <strong>Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.</strong> Am. J. Hum. Genet. 55: 1103-1112, 1994. Note: Erratum: Am. J. Hum. Genet. 56: 356 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977368</a>]" pmid="7977368">Kobayashi et al. (1994)</a> found that 10 of 23 affected alleles had the same mutation, deletion of exon 7 (<a href="#0003">603470.0003</a>). This differed from the situation in the United States, where far greater heterogeneity of mutations had been found. <a href="#22" class="mim-tip-reference" title="Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T. <strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong> Hum. Genet. 96: 454-463, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557970</a>] [<a href="https://doi.org/10.1007/BF00191806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557970">Kobayashi et al. (1995)</a> reported that 20 mutations had been identified in ASS mRNA in classic citrullinemia, including 14 single base changes causing missense mutations, 4 mutations associated with an absence of exons 5, 6, 7, or 13 in mRNA, 1 mutation with a deletion of the first 7 bases in exon 16 (caused by abnormal splicing), and 1 mutation with an insertion of 37 bases between the exon 15 and 16 regions of mRNA. In an extension of their previous studies, <a href="#22" class="mim-tip-reference" title="Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T. <strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong> Hum. Genet. 96: 454-463, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557970</a>] [<a href="https://doi.org/10.1007/BF00191806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557970">Kobayashi et al. (1995)</a> reported that 19 of 33 Japanese ASS alleles had the IVS6AS-2 (<a href="#0003">603470.0003</a>) mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7557970+7977368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Most reported patients with citrullinemia have presented with the classic form of the disease. There are also patients with a mild form of citrullinemia in whom the exact molecular basis and clinical relevance are uncertain. Mutations in the ASS gene had not been described in mildly affected or asymptomatic patients with citrullinemia until the work of <a href="#15" class="mim-tip-reference" title="Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G. <strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong> Hum. Genet. 110: 327-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941481</a>] [<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941481">Haberle et al. (2002)</a>, who described the entire genomic DNA sequence and mutations in the ASS gene of patients with both the classic and the mild form of the disease. The mutations gly390 to arg (G390R; <a href="#0009">603470.0009</a>), IVS13+5G-A (<a href="#0017">603470.0017</a>), and arg108 to leu (R108L; <a href="#0014">603470.0014</a>) were associated with classic citrullinemia, whereas the mutations trp179 to arg (W179R; <a href="#0015">603470.0015</a>) and gly362 to val (G362V; <a href="#0016">603470.0016</a>) were detected on alleles of mildly affected patients. These were cases of asymptomatic children with biochemical abnormalities. The authors concluded that the elucidation of the structure of the human ASS gene made it possible to use intronic primers for molecular analysis of patients with mild disease and the classic form, and provided another option for prenatal diagnostics in affected families with the severe type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 38 patients with classic citrullinemia, <a href="#13" class="mim-tip-reference" title="Gao, H.-Z., Kobayashi, K., Tabata, A., Tsuge, H., Iijima, M., Yasuda, T., Kalkanoglu, H. S., Dursun, A., Tokatli, A., Coskun, T., Trefz, F. K., Skladal, D., and 24 others. <strong>Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.</strong> Hum. Mutat. 22: 24-34, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815590</a>] [<a href="https://doi.org/10.1002/humu.10230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12815590">Gao et al. (2003)</a> identified 16 novel mutations in the ASS gene. Previously, 34 different mutations had been described in 50 families worldwide. Three mutations are particularly frequent: G390R (<a href="#0009">603470.0009</a>) in 18 families, IVS6-2A-G (<a href="#0003">603470.0003</a>) in 23 families (20 from Japan and 3 from Korea), and R304W (<a href="#0010">603470.0010</a>) in 10 families (9 from Japan and 1 from Turkey). The clinical course of the patients with truncating mutations or the G390R mutation seemed to be early-onset/severe. The phenotype of patients with certain missense mutations, G362V (<a href="#0016">603470.0016</a>) or W179R (<a href="#0015">603470.0015</a>), was late-onset/mild. Eight patients with R86H, A118T, R265H, or K310R showed an adult/onset phenotype and 4 of them showed severe symptoms during pregnancy or postpartum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In Friesian cattle in Australia, Harper et al. (<a href="#16" class="mim-tip-reference" title="Harper, P. A., Healy, P. J., Dennis, J. A., O'Brien, J. J., Rayward, D. H. <strong>Citrullinaemia as a cause of neurological disease in neonatal Friesian calves.</strong> Aust. Vet. J. 63: 378-379, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3827779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3827779</a>] [<a href="https://doi.org/10.1111/j.1751-0813.1986.tb02907.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3827779">1986</a>, <a href="#17" class="mim-tip-reference" title="Harper, P. A. W., Healy, P. J., Dennis, J. A. <strong>Animal model of human disease: citrullinemia (argininosuccinate synthetase deficiency).</strong> Am. J. Path. 135: 1213-1215, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596577</a>]" pmid="2596577">1989</a>) reported that citrullinemia-affected calves had a clinical disease similar to the acute neonatal form of citrullinemia in humans. <a href="#11" class="mim-tip-reference" title="Dennis, J. A., Healy, P. J., Beaudet, A. L., O'Brien, W. E. <strong>Molecular definition of bovine argininosuccinate synthetase deficiency.</strong> Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2813370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2813370</a>] [<a href="https://doi.org/10.1073/pnas.86.20.7947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2813370">Dennis et al. (1989)</a> cloned and sequenced bovine cDNA for argininosuccinate synthetase and found 96% identity with the deduced human sequence at the amino acid level. <a href="#11" class="mim-tip-reference" title="Dennis, J. A., Healy, P. J., Beaudet, A. L., O'Brien, W. E. <strong>Molecular definition of bovine argininosuccinate synthetase deficiency.</strong> Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2813370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2813370</a>] [<a href="https://doi.org/10.1073/pnas.86.20.7947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2813370">Dennis et al. (1989)</a> found, furthermore, a C-to-T transition converting arginine-86 (CGA) to a nonsense codon (TGA). The loss of an AvaII site could be used for rapid, economical, nonradioactive detection of heterozygotes for bovine citrullinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2813370+3827779+2596577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Seidl, M. J., Scharre, S., Posset, R., Druck, A. C., Epp, F., Okun, J. G., Dimitrov, B., Hoffmann, G. F., Kolker, S., Zielonka, M. <strong>ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.</strong> Molec. Genet. Metab. 141: 108097, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38113552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38113552</a>] [<a href="https://doi.org/10.1016/j.ymgme.2023.108097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38113552">Seidl et al. (2024)</a> generated a morpholino knockdown in zebrafish for ass1. The mutant fish had disorganized midbrain structures in the larval phase and reduced brain size. Neurod1 (<a href="/entry/601724">601724</a>) and elavl3 (<a href="/entry/603458">603458</a>) expression were reduced in mutant larvae, consistent with abnormal differentiation of neural progenitor cells. The mutant zebrafish had elevated citrulline and reduced arginine compared to wildtype fish, but ammonia was not elevated. Treating wildtype larvae with L-citrulline did not induce the brain defects observed in the ass1 knockdown fish. <a href="#32" class="mim-tip-reference" title="Seidl, M. J., Scharre, S., Posset, R., Druck, A. C., Epp, F., Okun, J. G., Dimitrov, B., Hoffmann, G. F., Kolker, S., Zielonka, M. <strong>ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.</strong> Molec. Genet. Metab. 141: 108097, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38113552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38113552</a>] [<a href="https://doi.org/10.1016/j.ymgme.2023.108097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38113552">Seidl et al. (2024)</a> hypothesized that ASS1 may have a moonlighting effect in brain development distinct from its role in the urea cycle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38113552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>19 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603470[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 CITRULLINEMIA, CLASSIC</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006693" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006693" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006693</a>
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<p><a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> demonstrated deletion of exon 5 in a case of citrullinemia (<a href="/entry/215700">215700</a>). <a href="#22" class="mim-tip-reference" title="Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T. <strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong> Hum. Genet. 96: 454-463, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557970</a>] [<a href="https://doi.org/10.1007/BF00191806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557970">Kobayashi et al. (1995)</a> stated that this represented deletion of 3 to 4 kb, including the 189-bp exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7557970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 CITRULLINEMIA, CLASSIC</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006694" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006694" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006694</a>
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<p><a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> demonstrated deletion of exon 6 in the ASS gene in a case of citrullinemia (<a href="/entry/215700">215700</a>). <a href="#22" class="mim-tip-reference" title="Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T. <strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong> Hum. Genet. 96: 454-463, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557970</a>] [<a href="https://doi.org/10.1007/BF00191806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557970">Kobayashi et al. (1995)</a> stated that this is a deletion of 2-3 kb, including the 57-bp exon 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7557970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 CITRULLINEMIA, CLASSIC</strong>
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ASS1, IVS6AS, A-G, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs751930594 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs751930594;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs751930594?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs751930594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs751930594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000179704 OR RCV000723844 OR RCV001388057" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000179704, RCV000723844, RCV001388057" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000179704...</a>
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<p><a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> demonstrated deletion of exon 7 in the ASS gene in a case of citrullinemia (<a href="/entry/215700">215700</a>). <a href="#22" class="mim-tip-reference" title="Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T. <strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong> Hum. Genet. 96: 454-463, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557970</a>] [<a href="https://doi.org/10.1007/BF00191806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557970">Kobayashi et al. (1995)</a> found that among Japanese patients with classic citrullinemia, the deletion of exon 7 accounted for 19 of 33 mutant alleles. The mutation is an A-to-G transition at the second nucleotide upstream for the acceptor splice-cleavage site within the 3-prime splice site of intron 6 and creates a new cleavage site for MspI, allowing detection by a combination of PCR and MspI RFLP analysis. <a href="#22" class="mim-tip-reference" title="Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T. <strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong> Hum. Genet. 96: 454-463, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557970</a>] [<a href="https://doi.org/10.1007/BF00191806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557970">Kobayashi et al. (1995)</a> confirmed that 9 patients with type III citrullinemia were homozygotes or compound heterozygotes for the exon 7 deletion. Although undetectable ASS protein is the criterion of type III citrullinemia, a very low amount of ASS crossreacting material was detected in the liver of a patient with this form of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7557970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CITRULLINEMIA, CLASSIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908636 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908636;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908636?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006696 OR RCV001376548" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006696, RCV001376548" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006696...</a>
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<p><a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> demonstrated a change in codon 14 of the ASS gene, GGC (gly) to AGC (ser), in a case of citrullinemia (<a href="/entry/215700">215700</a>).</p>
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<strong>.0005 CITRULLINEMIA, CLASSIC</strong>
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ASS1, ARG157HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908637 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908637;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908637?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006697 OR RCV000259104 OR RCV001376613" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006697, RCV000259104, RCV001376613" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006697...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> demonstrated a change in codon 157 of the ASS gene, CGC (arg) to CAC (his), in a case of citrullinemia (<a href="/entry/215700">215700</a>).</p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 CITRULLINEMIA, CLASSIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ASS1, SER180ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908638 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908638;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908638?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006698 OR RCV000185782 OR RCV001376618" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006698, RCV000185782, RCV001376618" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006698...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> demonstrated a change in codon 180 in the ASS gene, AGC (ser) to AAC (asn), in a case of citrullinemia (<a href="/entry/215700">215700</a>).</p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<a id="0007" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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|
<span class="mim-text-font">
|
|
|
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|
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<div style="float: left;">
|
|
ASS1, GLY324SER
|
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</div>
|
|
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</span>
|
|
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|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908639 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908639;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908639?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
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|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006699 OR RCV001376631 OR RCV001531743 OR RCV003934804" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006699, RCV001376631, RCV001531743, RCV003934804" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006699...</a>
|
|
</span>
|
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</div>
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> demonstrated change in codon 324 in the ASS gene, GGT (gly) to AGT (ser), in a case of citrullinemia (<a href="/entry/215700">215700</a>).</p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<a id="0008" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
ASS1, ARG363TRP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908640;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908640?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006700 OR RCV000185787 OR RCV001376637" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006700, RCV000185787, RCV001376637" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006700...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> demonstrated a change in codon 363 in the ASS gene, CGG (arg) to TGG (trp), in a case of citrullinemia (<a href="/entry/215700">215700</a>).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
|
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|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0009" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
ASS1, GLY390ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908641 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908641;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908641?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
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|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006701 OR RCV000185789 OR RCV001376575 OR RCV002512846" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006701, RCV000185789, RCV001376575, RCV002512846" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006701...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#20" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> demonstrated a change in codon 390 in the ASS gene, GGC (gly) to AGG (arg), in a case of citrullinemia (<a href="/entry/215700">215700</a>). Five of the 6 single base mutations involved C:G to T:A transitions in CpG dinucleotides.</p><p>In a review, <a href="#12" class="mim-tip-reference" title="Engel, K., Hohne, W., Haberle, J. <strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong> Hum. Mutat. 30: 300-307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>] [<a href="https://doi.org/10.1002/humu.20847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006241">Engel et al. (2009)</a> stated that the G390R mutation is the most common mutation in patients with the classic phenotype of citrullinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
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</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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|
<div>
|
|
<a id="0010" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
ASS1, ARG304TRP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908642 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908642;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908642?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
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|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006702 OR RCV000723845 OR RCV001376582" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006702, RCV000723845, RCV001376582" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006702...</a>
|
|
</span>
|
|
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|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#21" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.</strong> J. Biol. Chem. 265: 11361-11367, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2358466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2358466</a>]" pmid="2358466">Kobayashi et al. (1990)</a> demonstrated a change in codon 304 in the ASS gene, CGG (arg) to TGG (trp), in a case of citrullinemia (<a href="/entry/215700">215700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2358466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
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</span>
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</div>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<a id="0011" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
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|
<div style="float: left;">
|
|
ASS1, SER18LEU
|
|
</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908643 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908643;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908643?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006703 OR RCV002512847 OR RCV004755716" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006703, RCV002512847, RCV004755716" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006703...</a>
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<p><a href="#23" class="mim-tip-reference" title="Kobayashi, K., Rosenbloom, C., Beaudet, A. L., O'Brien, W. E. <strong>Additional mutations in argininosuccinate synthetase causing citrullinemia.</strong> Molec. Biol. Med. 8: 95-100, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1943692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1943692</a>]" pmid="1943692">Kobayashi et al. (1991)</a> demonstrated an S18L mutation due to a C-to-T transition in a CpG dinucleotide of the ASS gene in a case of citrullinemia (<a href="/entry/215700">215700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1943692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 CITRULLINEMIA, CLASSIC</strong>
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ASS1, ARG86CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908644 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908644;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908644?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006704 OR RCV001376621 OR RCV001555941" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006704, RCV001376621, RCV001555941" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006704...</a>
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<p><a href="#23" class="mim-tip-reference" title="Kobayashi, K., Rosenbloom, C., Beaudet, A. L., O'Brien, W. E. <strong>Additional mutations in argininosuccinate synthetase causing citrullinemia.</strong> Molec. Biol. Med. 8: 95-100, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1943692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1943692</a>]" pmid="1943692">Kobayashi et al. (1991)</a> described an R86C mutation resulting from a C-to-T transition in a CpG dinucleotide of the ASS gene in a case of citrullinemia (<a href="/entry/215700">215700</a>). They stated that 8 of 9 missense mutations causing citrullinemia involved similar transitions in CpG dinucleotides. Six of 9 missense mutations in humans occur in amino acid positions that are completely conserved in 4 mammalian species, yeast, and 3 bacterial species. Mutations causing human citrullinemia are extremely heterogeneous; all nonconsanguineous persons studied to 1991 had been found to be compound heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1943692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0013" class="mim-anchor"></a>
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<strong>.0013 CITRULLINEMIA, CLASSIC</strong>
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ASS1, ARG279TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908645 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908645;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908645?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006705 OR RCV001376581" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006705, RCV001376581" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006705...</a>
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<p>In a citrullinemia (<a href="/entry/215700">215700</a>) patient carrying an RNA-negative allele, <a href="#26" class="mim-tip-reference" title="Li, C.-M., Chao, H.-K., Liu, Y.-F., Su, T.-S. <strong>A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.</strong> Europ. J. Hum. Genet. 9: 685-689, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11571557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11571557</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11571557">Li et al. (2001)</a> described a C-to-T transition at nucleotide 835 in the cDNA of the ASS gene, converting the CGA arginine codon to a TGA termination codon within exon 12 (R279X). The patient was compound heterozygous for the R279X mutation and the IVS6-2A-G mutation (<a href="#0003">603470.0003</a>). There was no indication of the R279X mutation leading to altered splicing, and the most likely defect responsible for the mRNA reduction appeared to be nonsense-mediated mRNA decay affecting the abundance of nucleus-associated mRNA. It was estimated that mRNA from the R279X allele was less than 2% of the normal level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11571557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0014" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0014 CITRULLINEMIA, CLASSIC</strong>
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ASS1, ARG108LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35269064 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35269064;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35269064?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35269064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35269064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006706 OR RCV000256315 OR RCV000436562 OR RCV001273804 OR RCV001705583" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006706, RCV000256315, RCV000436562, RCV001273804, RCV001705583" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006706...</a>
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<span class="mim-text-font">
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<p>In a patient with classic citrullinemia (<a href="/entry/215700">215700</a>), <a href="#15" class="mim-tip-reference" title="Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G. <strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong> Hum. Genet. 110: 327-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941481</a>] [<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941481">Haberle et al. (2002)</a> identified compound heterozygosity for a G-to-T transversion at nucleotide 323 of the ASS gene, resulting in an arg108-to-leu substitution, and a G-to-A transition at the +5 position downstream of the intron 13 donor site (<a href="#0017">603470.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0015" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0015 CITRULLINEMIA, MILD</strong>
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</h4>
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ASS1, TRP179ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908646 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908646;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908646?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006707 OR RCV000256312 OR RCV000291508 OR RCV001376556 OR RCV003914816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006707, RCV000256312, RCV000291508, RCV001376556, RCV003914816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006707...</a>
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<p>In 2 sibs of each of 2 families, <a href="#15" class="mim-tip-reference" title="Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G. <strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong> Hum. Genet. 110: 327-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941481</a>] [<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941481">Haberle et al. (2002)</a> identified a T-to-C transition at nucleotide 535 of the ASS gene, resulting in a trp179-to-arg substitution, associated with mild citrullinemia (see <a href="/entry/215700">215700</a>). Both families were of Turkish extraction and the parents were consanguineous. Three of the affected children were asymptomatic. The fourth had mild mental retardation. There was no hyperammonemia in any of the 4. Enzyme assays showed levels of activity varying from 7 to 26%. The plasma levels of citrulline were considerably lower than in classic citrullinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 CITRULLINEMIA, MILD</strong>
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</h4>
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ASS1, GLY362VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908647 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908647;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908647?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006708 OR RCV000256322 OR RCV000418697 OR RCV001851704" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006708, RCV000256322, RCV000418697, RCV001851704" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006708...</a>
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<p>In a Turkish family with consanguineous parents, <a href="#15" class="mim-tip-reference" title="Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G. <strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong> Hum. Genet. 110: 327-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941481</a>] [<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941481">Haberle et al. (2002)</a> found that asymptomatic citrullinemia (see <a href="/entry/215700">215700</a>) was caused by a G-to-T transversion at nucleotide 1085 of the ASS gene, resulting in a gly362-to-val substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs372128852 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs372128852;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs372128852?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs372128852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs372128852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000256325 OR RCV001376552 OR RCV002252073 OR RCV003324739" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000256325, RCV001376552, RCV002252073, RCV003324739" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000256325...</a>
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<p>See <a href="#0014">603470.0014</a> and <a href="#15" class="mim-tip-reference" title="Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G. <strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong> Hum. Genet. 110: 327-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941481</a>] [<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941481">Haberle et al. (2002)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs727503814 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727503814;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs727503814?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs727503814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs727503814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000152808 OR RCV000723939 OR RCV001376639" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000152808, RCV000723939, RCV001376639" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000152808...</a>
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<p>In a patient with neonatal citrullinemia (<a href="/entry/215700">215700</a>), <a href="#21" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.</strong> J. Biol. Chem. 265: 11361-11367, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2358466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2358466</a>]" pmid="2358466">Kobayashi et al. (1990)</a> found a G-to-C transversion in the last nucleotide of intron 15 of the ASS gene. The mutation resulted in a 7-base deletion in exon 16 of ASS mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2358466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Potter, M. A., Zeesman, S., Brennan, B., Kobayashi, K., Gao, H.-Z., Tabata, A., Saheki, T., Whelan, D. T. <strong>Pregnancy in a healthy woman with untreated citrullinemia.</strong> Am. J. Med. Genet. 129A: 77-82, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266621</a>] [<a href="https://doi.org/10.1002/ajmg.a.20559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266621">Potter et al. (2004)</a> found this mutation in compound heterozygosity with a novel missense mutation (<a href="#0019">603470.0019</a>) in an adult female patient, diagnosed through newborn screening, who underwent 2 successful pregnancies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15266621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Gucer, S., Asan, E., Atilla, P., Tokatli, A., Caglar, M. <strong>Early cirrhosis in a patient with type I citrullinaemia (CTLN1).</strong> J. Inherit. Metab. Dis. 27: 541-542, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15334737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15334737</a>] [<a href="https://doi.org/10.1023/b:boli.0000037401.63596.de" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15334737">Gucer et al. (2004)</a> identified this homozygous splice site mutation in a girl with severe neonatal citrullinemia who died at age 17 months of early liver cirrhosis and hepatic encephalopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15334737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 CITRULLINEMIA, CLASSIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908648 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908648;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908648?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006711 OR RCV002512848" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006711, RCV002512848" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006711...</a>
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<p>In an adult female with citrullinemia (<a href="/entry/215700">215700</a>) who had been diagnosed through newborn screening and had been described by <a href="#35" class="mim-tip-reference" title="Whelan, D. T., Brusso, T., Spate, M. <strong>Citrullinemia: phenotypic variations.</strong> Pediatrics 57: 935-941, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/934749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">934749</a>]" pmid="934749">Whelan et al. (1976)</a>, <a href="#29" class="mim-tip-reference" title="Potter, M. A., Zeesman, S., Brennan, B., Kobayashi, K., Gao, H.-Z., Tabata, A., Saheki, T., Whelan, D. T. <strong>Pregnancy in a healthy woman with untreated citrullinemia.</strong> Am. J. Med. Genet. 129A: 77-82, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266621</a>] [<a href="https://doi.org/10.1002/ajmg.a.20559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266621">Potter et al. (2004)</a> found compound heterozygosity for mutations in the ASS gene. A previously described splice site mutation was found in intron 15 (<a href="#0018">603470.0018</a>); on the other allele a novel missense mutation, a 928A-C transversion in exon 13 resulting in glutamine substituting lysine at codon 310 (K310Q), was found. When described as a child her lack of symptoms despite high citrulline levels was novel. She underwent 2 successful pregnancies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=934749+15266621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>See Also:</strong>
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<a href="#Beaudet1986" class="mim-tip-reference" title="Beaudet, A. L., O'Brien, W. E., Bock, H.-G. O., Freytag, S. O., Su, T.-S. <strong>The human argininosuccinate synthetase locus and citrullinemia.</strong> Adv. Hum. Genet. 15: 161-196, 1986.">Beaudet et al. (1986)</a>; <a href="#Beaudet1981" class="mim-tip-reference" title="Beaudet, A. L., Su, T.-S., Bock, H.-G., D'Eustachio, P., Ruddle, F. H., O'Brien, W. E. <strong>Use of a cloned cDNA to study human argininosuccinate synthetase. (Abstract)</strong> Am. J. Hum. Genet. 33: 36A only, 1981.">Beaudet et al. (1981)</a>; <a href="#Carritt1977" class="mim-tip-reference" title="Carritt, B. <strong>Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9.</strong> Cytogenet. Cell Genet. 19: 44-48, 1977.">Carritt (1977)</a>; <a href="#Daiger1984" class="mim-tip-reference" title="Daiger, S. P., Hoffman, N. S., Wildin, R. S., Su, T.-S. <strong>Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).</strong> Am. J. Hum. Genet. 36: 736-749, 1984.">Daiger
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et al. (1984)</a>; <a href="#Daiger1981" class="mim-tip-reference" title="Daiger, S. P., Wildin, R. S., Su, T.-S. <strong>Polymorphic variants of restriction fragments of human DNA detected with a probe to argininosuccinate synthetase. (Abstract)</strong> Am. J. Hum. Genet. 33: 136A only, 1981.">Daiger et al. (1981)</a>; <a href="#Daiger1982" class="mim-tip-reference" title="Daiger, S. P., Wildin, R. S., Su, T.-S. <strong>Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase.</strong> Nature 298: 682-684, 1982.">Daiger et al. (1982)</a>; <a href="#Kobayashi1987" class="mim-tip-reference" title="Kobayashi, K., Ichiki, H., Saheki, T., Tatsuno, M., Uchiyama, C., Nukada, O., Yoda, T. <strong>Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.</strong> Hum. Genet. 76: 27-32, 1987.">Kobayashi
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et al. (1987)</a>; <a href="#Kobayashi1986" class="mim-tip-reference" title="Kobayashi, K., Saheki, T., Imamura, Y., Noda, T., Inoue, I., Matuo, S., Hagihara, S., Nomiyama, H., Jinno, Y., Shimada, K. <strong>Messenger RNA coding for argininosuccinate synthetase in citrullinemia.</strong> Am. J. Hum. Genet. 38: 667-680, 1986.">Kobayashi et al. (1986)</a>; <a href="#Sase1985" class="mim-tip-reference" title="Sase, M., Kobayashi, K., Imamura, Y., Saheki, T., Nakano, K., Miura, S., Mori, M. <strong>Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia.</strong> Hum. Genet. 69: 130-134, 1985.">Sase et al. (1985)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Beaudet1986" class="mim-anchor"></a>
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|
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Beaudet, A. L., O'Brien, W. E., Bock, H.-G. O., Freytag, S. O., Su, T.-S.
|
|
<strong>The human argininosuccinate synthetase locus and citrullinemia.</strong>
|
|
Adv. Hum. Genet. 15: 161-196, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3513483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3513483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3513483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/978-1-4615-8356-1_3" target="_blank">Full Text</a>]
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<a id="Beaudet1981" class="mim-anchor"></a>
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|
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Beaudet, A. L., Su, T.-S., Bock, H.-G., D'Eustachio, P., Ruddle, F. H., O'Brien, W. E.
|
|
<strong>Use of a cloned cDNA to study human argininosuccinate synthetase. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 33: 36A only, 1981.
|
|
|
|
|
|
|
|
|
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|
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</p>
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</div>
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<a id="Beaudet1982" class="mim-anchor"></a>
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|
|
Beaudet, A. L., Su, T.-S., O'Brien, W. E., D'Eustachio, P., Barker, P. E., Ruddle, F. H.
|
|
<strong>Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome.</strong>
|
|
Cell 30: 287-293, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6897015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6897015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6897015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(82)90034-4" target="_blank">Full Text</a>]
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|
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|
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|
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|
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<a id="Bock1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bock, H.-G. O., Su, T.-S., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Sequence for human argininosuccinate synthetase cDNA.</strong>
|
|
Nucleic Acids Res. 11: 6505-6512, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6194510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6194510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6194510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/11.18.6505" target="_blank">Full Text</a>]
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</p>
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</li>
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|
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|
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<a id="Carritt1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carritt, B., Goldfarb, P. S. G., Hooper, M. L., Slack, C.
|
|
<strong>Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamster-human somatic cell hybrids.</strong>
|
|
Exp. Cell Res. 106: 71-78, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=852520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-4827(77)90242-7" target="_blank">Full Text</a>]
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|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carritt, B.
|
|
<strong>Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9.</strong>
|
|
Cytogenet. Cell Genet. 19: 44-48, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/891260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">891260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=891260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000130793" target="_blank">Full Text</a>]
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</p>
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</div>
|
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</li>
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<li>
|
|
<a id="7" class="mim-anchor"></a>
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<a id="Cathelineau1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cathelineau, L., Pham Dinh, D., Briand, P., Kamoun, P.
|
|
<strong>Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.</strong>
|
|
Hum. Genet. 57: 282-284, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7250970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7250970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7250970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00278945" target="_blank">Full Text</a>]
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</p>
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</div>
|
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</li>
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|
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<li>
|
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<a id="8" class="mim-anchor"></a>
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<a id="Daiger1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Daiger, S. P., Hoffman, N. S., Wildin, R. S., Su, T.-S.
|
|
<strong>Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).</strong>
|
|
Am. J. Hum. Genet. 36: 736-749, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6089548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6089548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6089548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
|
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</li>
|
|
|
|
<li>
|
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<a id="9" class="mim-anchor"></a>
|
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<a id="Daiger1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Daiger, S. P., Wildin, R. S., Su, T.-S.
|
|
<strong>Polymorphic variants of restriction fragments of human DNA detected with a probe to argininosuccinate synthetase. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 33: 136A only, 1981.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
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<a id="Daiger1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Daiger, S. P., Wildin, R. S., Su, T.-S.
|
|
<strong>Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase.</strong>
|
|
Nature 298: 682-684, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7099264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7099264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7099264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1038/298682a0" target="_blank">Full Text</a>]
|
|
|
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|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Dennis1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dennis, J. A., Healy, P. J., Beaudet, A. L., O'Brien, W. E.
|
|
<strong>Molecular definition of bovine argininosuccinate synthetase deficiency.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2813370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2813370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2813370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1073/pnas.86.20.7947" target="_blank">Full Text</a>]
|
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|
|
|
|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Engel2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Engel, K., Hohne, W., Haberle, J.
|
|
<strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong>
|
|
Hum. Mutat. 30: 300-307, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1002/humu.20847" target="_blank">Full Text</a>]
|
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|
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Gao2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gao, H.-Z., Kobayashi, K., Tabata, A., Tsuge, H., Iijima, M., Yasuda, T., Kalkanoglu, H. S., Dursun, A., Tokatli, A., Coskun, T., Trefz, F. K., Skladal, D., and 24 others.
|
|
<strong>Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.</strong>
|
|
Hum. Mutat. 22: 24-34, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
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|
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[<a href="https://doi.org/10.1002/humu.10230" target="_blank">Full Text</a>]
|
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|
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</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
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<a id="Gucer2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gucer, S., Asan, E., Atilla, P., Tokatli, A., Caglar, M.
|
|
<strong>Early cirrhosis in a patient with type I citrullinaemia (CTLN1).</strong>
|
|
J. Inherit. Metab. Dis. 27: 541-542, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15334737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15334737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15334737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1023/b:boli.0000037401.63596.de" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Haberle2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G.
|
|
<strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong>
|
|
Hum. Genet. 110: 327-333, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Harper1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harper, P. A., Healy, P. J., Dennis, J. A., O'Brien, J. J., Rayward, D. H.
|
|
<strong>Citrullinaemia as a cause of neurological disease in neonatal Friesian calves.</strong>
|
|
Aust. Vet. J. 63: 378-379, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3827779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3827779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3827779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1111/j.1751-0813.1986.tb02907.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
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|
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<a id="Harper1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harper, P. A. W., Healy, P. J., Dennis, J. A.
|
|
<strong>Animal model of human disease: citrullinemia (argininosuccinate synthetase deficiency).</strong>
|
|
Am. J. Path. 135: 1213-1215, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2596577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
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<a id="Jackson1990" class="mim-anchor"></a>
|
|
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|
|
<p class="mim-text-font">
|
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Jackson, M. J., Surh, L. C., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2.</strong>
|
|
Genomics 6: 545-547, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1970331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1970331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1970331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90484-c" target="_blank">Full Text</a>]
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|
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|
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|
|
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|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Kobayashi1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Kobayashi, K., Ichiki, H., Saheki, T., Tatsuno, M., Uchiyama, C., Nukada, O., Yoda, T.
|
|
<strong>Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.</strong>
|
|
Hum. Genet. 76: 27-32, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3570300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3570300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3570300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00283045" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Kobayashi1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Kobayashi1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.</strong>
|
|
J. Biol. Chem. 265: 11361-11367, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2358466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2358466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2358466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Kobayashi1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T.
|
|
<strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong>
|
|
Hum. Genet. 96: 454-463, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7557970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00191806" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Kobayashi1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Rosenbloom, C., Beaudet, A. L., O'Brien, W. E.
|
|
<strong>Additional mutations in argininosuccinate synthetase causing citrullinemia.</strong>
|
|
Molec. Biol. Med. 8: 95-100, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1943692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1943692</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1943692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Kobayashi1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Saheki, T., Imamura, Y., Noda, T., Inoue, I., Matuo, S., Hagihara, S., Nomiyama, H., Jinno, Y., Shimada, K.
|
|
<strong>Messenger RNA coding for argininosuccinate synthetase in citrullinemia.</strong>
|
|
Am. J. Hum. Genet. 38: 667-680, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3459354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3459354</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3459354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Kobayashi1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Shaheen, N., Terazono, H., Saheki, T.
|
|
<strong>Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.</strong>
|
|
Am. J. Hum. Genet. 55: 1103-1112, 1994. Note: Erratum: Am. J. Hum. Genet. 56: 356 only, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7977368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Li2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Li, C.-M., Chao, H.-K., Liu, Y.-F., Su, T.-S.
|
|
<strong>A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.</strong>
|
|
Europ. J. Hum. Genet. 9: 685-689, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11571557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11571557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11571557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.ejhg.5200695" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="McCarrey1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McCarrey, J. R., Riggs, A. D.
|
|
<strong>Determinator-inhibitor pairs as a mechanism for threshold setting in development: a possible function for pseudogenes.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 679-683, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2418440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2418440</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2418440" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.3.679" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Northrup1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Northrup, H., Lathrop, M., Lu, S.-Y., Daiger, S. P., Beaudet, A. L., O'Brien, W. E.
|
|
<strong>Multilocus linkage analysis with the human argininosuccinate synthetase gene.</strong>
|
|
Genomics 5: 442-444, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2575581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2575581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2575581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(89)90007-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Potter2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Potter, M. A., Zeesman, S., Brennan, B., Kobayashi, K., Gao, H.-Z., Tabata, A., Saheki, T., Whelan, D. T.
|
|
<strong>Pregnancy in a healthy woman with untreated citrullinemia.</strong>
|
|
Am. J. Med. Genet. 129A: 77-82, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15266621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.20559" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Rabinovich2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rabinovich, S., Adler, L., Yizhak, K., Sarver, A., Silberman, A., Agron, S., Stettner, N., Sun, Q., Brandis, A., Helbling, D., Korman, S., Itzkovitz, S., Dimmock, D., Ulitsky, I., Nagamani, S. C. S., Ruppin, E., Erez, A.
|
|
<strong>Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.</strong>
|
|
Nature 527: 379-383, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26560030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26560030</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26560030[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26560030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature15529" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Sase1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sase, M., Kobayashi, K., Imamura, Y., Saheki, T., Nakano, K., Miura, S., Mori, M.
|
|
<strong>Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia.</strong>
|
|
Hum. Genet. 69: 130-134, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3972414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3972414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3972414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00293282" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Seidl2024" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Seidl, M. J., Scharre, S., Posset, R., Druck, A. C., Epp, F., Okun, J. G., Dimitrov, B., Hoffmann, G. F., Kolker, S., Zielonka, M.
|
|
<strong>ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.</strong>
|
|
Molec. Genet. Metab. 141: 108097, 2024.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38113552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38113552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38113552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2023.108097" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Su1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Su, T.-S., Nussbaum, R. L., Airhart, S., Ledbetter, D. H., Mohandas, T., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.</strong>
|
|
Am. J. Hum. Genet. 36: 954-964, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6093508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6093508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6093508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
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|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Todd1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Todd, S., Naylor, S. L.
|
|
<strong>New chromosomal mapping assignments for argininosuccinate synthetase pseudogene 1, interferon-beta-3 gene, and the diazepam binding inhibitor gene.</strong>
|
|
Somat. Cell Molec. Genet. 18: 381-385, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1440058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1440058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1440058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01235761" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Whelan1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Whelan, D. T., Brusso, T., Spate, M.
|
|
<strong>Citrullinemia: phenotypic variations.</strong>
|
|
Pediatrics 57: 935-941, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/934749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">934749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=934749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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|
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|
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|
|
|
|
</ol>
|
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|
|
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|
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|
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Hilary J. Vernon - updated : 02/13/2024
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Ada Hamosh - updated : 12/08/2016<br>Cassandra L. Kniffin - updated : 10/20/2009<br>Cassandra L. Kniffin - updated : 5/7/2009<br>Anne M. Stumpf - updated : 1/13/2005<br>Victor A. McKusick - updated : 8/18/2003<br>Victor A. McKusick - updated : 6/4/2002<br>Michael B. Petersen - updated : 2/28/2002
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Victor A. McKusick : 1/28/1999
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carol : 02/13/2024
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joanna : 04/22/2022<br>carol : 12/09/2016<br>alopez : 12/08/2016<br>alopez : 10/17/2016<br>joanna : 07/01/2016<br>carol : 4/4/2013<br>carol : 4/4/2013<br>carol : 7/30/2010<br>wwang : 10/29/2009<br>ckniffin : 10/20/2009<br>ckniffin : 10/20/2009<br>joanna : 9/29/2009<br>wwang : 5/19/2009<br>ckniffin : 5/7/2009<br>terry : 5/17/2005<br>alopez : 1/13/2005<br>cwells : 8/21/2003<br>terry : 8/18/2003<br>mgross : 6/5/2002<br>terry : 6/4/2002<br>cwells : 3/6/2002<br>cwells : 2/28/2002<br>carol : 5/26/1999<br>carol : 5/26/1999
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<strong>*</strong> 603470
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ARGININOSUCCINATE SYNTHETASE 1; ASS1
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<em>Alternative titles; symbols</em>
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ASS
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Other entities represented in this entry:
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ARGININOSUCCINATE SYNTHETASE PSEUDOGENES, INCLUDED
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<strong><em>HGNC Approved Gene Symbol: ASS1</em></strong>
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<strong>SNOMEDCT:</strong> 1149103000;
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Cytogenetic location: 9q34.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:130,444,707-130,501,274 </span>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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9q34.11
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Citrullinemia
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215700
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The ASS1 gene encodes argininosuccinate synthetase-1 (EC 6.3.4.5), a cytosolic urea cycle enzyme mainly expressed in periportal hepatocytes, but also in most other body tissues. The enzyme is a homotetrameric protein composed of 45-kD monomers and is involved in the synthesis of arginine and catalyzes that condensation of citrulline and aspartate to argininosuccinate using ATP (summary by Engel et al., 2009). </p>
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<strong>Cloning and Expression</strong>
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<p>Bock et al. (1983) isolated clones corresponding to the ASS1 gene from a human cDNA library. The deduced 412-residue protein has a molecular mass of 46 kD. Haberle et al. (2002) provided a revised sequence for the ASS1 gene. Engel et al. (2009) noted that the enzyme is usually described as having 3 domains: a nucleotide-binding domain, the synthetase domain, and a C-terminal oligomerization domain. </p><p>Dennis et al. (1989) cloned and sequenced bovine cDNA for argininosuccinate synthetase and found 96% identity with the deduced human sequence at the amino acid level. </p>
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<strong>Gene Structure</strong>
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<p>Haberle et al. (2002) determined that the ASS1 gene contains 16 exons. The start codon is in exon 3 and the stop codon in exon 16. </p>
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<strong>Gene Function</strong>
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<p>Rabinovich et al. (2015) demonstrated that decreased activity of ASS1 in cancers supports proliferation by facilitating pyrimidine synthesis via CAD (carbamoyl-phosphate synthase 2, aspartate transcarbamylase, and dihydroorotase complex; 114010) activation. The studies were initiated by delineating the consequences of loss of ASS1 activity in humans with 2 types of citrullinemia. Rabinovich et al. (2015) found that in citrullinemia type I (CTLN1; 215700), which is caused by deficiency of ASS1, there is increased pyrimidine synthesis and proliferation compared with citrullinemia type II (CTLN2; see 603471), in which there is decreased substrate availability for ASS1 caused by deficiency of the aspartate transporter citrin (SLC25A13; 603859). Building on these results, Rabinovich et al. (2015) demonstrated that ASS1 deficiency in cancer increases cytosolic aspartate levels, which increases CAD activation by upregulating its substrate availability and by increasing its phosphorylation by S6K1 (608938) through the mammalian target of rapamycin (mTOR; 601231) pathway. Decreasing CAD activity by blocking citrin, the mTOR signaling, or pyrimidine synthesis decreases proliferation and thus may serve as a therapeutic strategy in multiple cancers where ASS1 is downregulated. Rabinovich et al. (2015) concluded that their results demonstrated that ASS1 downregulation is a novel mechanism supporting cancerous proliferation, and their results provided a metabolic link between the urea cycle enzymes and pyrimidine synthesis. </p>
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<strong>Mapping</strong>
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<p>From study of human-hamster cell hybrids, Carritt et al. (1977) concluded that a gene for argininosuccinate synthetase (ASS) is carried by chromosome 9. In a study of 10 citrullinemic cell lines, no complementation was observed (Cathelineau et al., 1981). </p><p>Northrup et al. (1989) identified 3 RFLPs within the ASS gene. They found that the ASS gene is located about 0.04 cM from the ABO blood group locus (110300) and is probably centromeric to ABO, between ABO and ABL (189980). </p><p>Engel et al. (2009) stated that the functional human ASS1 gene maps to chromosome 9q34.11-q34.12. </p><p>Jackson et al. (1990) assigned the murine equivalent to the proximal portion of mouse chromosome 2 by study of recombinant inbred strains. </p><p><strong><em>PSEUDOGENES</em></strong></p><p>
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Engel et al. (2009) noted that the ASS1 gene has 10 to 14 homologous copies scattered across the human genome. However, only the sequence on chromosome 9q34 seems to encode a functional protein. </p><p>Using a cDNA probe for argininosuccinate synthetase, Beaudet et al. (1982) identified 10 or more distinct DNA sequences bearing homology. The only functional sequence is presumably that on chromosome 9, which is mutant in classic citrullinemia. Pseudogenes are situated on several autosomes (including ASSP2 on chromosome 6), on the X chromosome (ASSP4 and ASSP5), and perhaps on the Y chromosome (ASSP6). </p><p>Su et al. (1984) mapped pseudogenes for ASS to 2cen-p25, 3qter-q12, 4qter-q21, 5 (2 loci), 6, 7, 9p13-q11, 9q11-q22, 11q, 12, Xpter-p22, Xq22-q26, and Ycen-q11. They emphasized the usefulness of cloned probes in cytogenetic analysis. Such dispersion may have been mediated by a transposable element. McCarrey and Riggs (1986) proposed that determinator-inhibitor pairs are a mechanism for threshold setting in development, and that pseudogenes may serve as the source of intracellular inhibitors. They suggested that the system could function at the RNA level by the pairs taking the form of sense-antisense RNAs or at the protein level via a competitive inhibition mechanism. By PCR amplification of specific sequences in somatic cell hybrids, Todd and Naylor (1992) demonstrated that an ASS pseudogene, which they referred to as ASSP1, maps to 6p23-p12. </p>
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<strong>Molecular Genetics</strong>
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<p>Engel et al. (2009) provided a review of mutations in the ASS1 gene. They listed 87 mutations, including 27 novel mutations, in patients with citrullinemia (215700). Mutations are distributed throughout the gene, and it is usually difficult to predict the phenotype based on genotype. However, the G390R mutation (603470.0009) in exon 15 was found to be the single most common mutation in patients with the classic phenotype. Engel et al. (2009) also provided a map of the geographic distribution of ASS1 mutations worldwide. </p><p>Type I, or classic, citrullinemia is caused by deficiency of argininosuccinate synthetase. Kinetically abnormal ASS is demonstrable in the liver, kidney, and cultured fibroblasts. Kobayashi et al. (1989) found that since most patients with citrullinemia express stable mRNA in fibroblasts, the disorder is ideally suited for gene amplification with PCR and sequence analysis of mutant cDNA. They sequenced cDNA from 11 independent chromosomes and identified 9 different mutations: 3 showed absence of exon 5, 6 or 7, and 6 showed point mutations. Five of the 6 involved C:G-to-T:A transitions in CpG dinucleotides, and 3 of these resulted in loss of MspI sites. Kobayashi et al. (1990) further demonstrated the marked heterogeneity of mutations causing citrullinemia: among 13 unrelated patients with the neonatal form of the disease, they found 10 different mutations. Seven were single missense mutations. Two had deletions of single exons (exon 7 and exon 13) and one had a G-to-C substitution in the last position of intron 15 resulting in splicing to a cryptic splice site within exon 16. </p><p>In the course of studying the molecular nature of mutations in Japanese patients with classic citrullinemia, Kobayashi et al. (1994) found that 10 of 23 affected alleles had the same mutation, deletion of exon 7 (603470.0003). This differed from the situation in the United States, where far greater heterogeneity of mutations had been found. Kobayashi et al. (1995) reported that 20 mutations had been identified in ASS mRNA in classic citrullinemia, including 14 single base changes causing missense mutations, 4 mutations associated with an absence of exons 5, 6, 7, or 13 in mRNA, 1 mutation with a deletion of the first 7 bases in exon 16 (caused by abnormal splicing), and 1 mutation with an insertion of 37 bases between the exon 15 and 16 regions of mRNA. In an extension of their previous studies, Kobayashi et al. (1995) reported that 19 of 33 Japanese ASS alleles had the IVS6AS-2 (603470.0003) mutation. </p><p>Most reported patients with citrullinemia have presented with the classic form of the disease. There are also patients with a mild form of citrullinemia in whom the exact molecular basis and clinical relevance are uncertain. Mutations in the ASS gene had not been described in mildly affected or asymptomatic patients with citrullinemia until the work of Haberle et al. (2002), who described the entire genomic DNA sequence and mutations in the ASS gene of patients with both the classic and the mild form of the disease. The mutations gly390 to arg (G390R; 603470.0009), IVS13+5G-A (603470.0017), and arg108 to leu (R108L; 603470.0014) were associated with classic citrullinemia, whereas the mutations trp179 to arg (W179R; 603470.0015) and gly362 to val (G362V; 603470.0016) were detected on alleles of mildly affected patients. These were cases of asymptomatic children with biochemical abnormalities. The authors concluded that the elucidation of the structure of the human ASS gene made it possible to use intronic primers for molecular analysis of patients with mild disease and the classic form, and provided another option for prenatal diagnostics in affected families with the severe type. </p><p>In a study of 38 patients with classic citrullinemia, Gao et al. (2003) identified 16 novel mutations in the ASS gene. Previously, 34 different mutations had been described in 50 families worldwide. Three mutations are particularly frequent: G390R (603470.0009) in 18 families, IVS6-2A-G (603470.0003) in 23 families (20 from Japan and 3 from Korea), and R304W (603470.0010) in 10 families (9 from Japan and 1 from Turkey). The clinical course of the patients with truncating mutations or the G390R mutation seemed to be early-onset/severe. The phenotype of patients with certain missense mutations, G362V (603470.0016) or W179R (603470.0015), was late-onset/mild. Eight patients with R86H, A118T, R265H, or K310R showed an adult/onset phenotype and 4 of them showed severe symptoms during pregnancy or postpartum. </p>
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<p>In Friesian cattle in Australia, Harper et al. (1986, 1989) reported that citrullinemia-affected calves had a clinical disease similar to the acute neonatal form of citrullinemia in humans. Dennis et al. (1989) cloned and sequenced bovine cDNA for argininosuccinate synthetase and found 96% identity with the deduced human sequence at the amino acid level. Dennis et al. (1989) found, furthermore, a C-to-T transition converting arginine-86 (CGA) to a nonsense codon (TGA). The loss of an AvaII site could be used for rapid, economical, nonradioactive detection of heterozygotes for bovine citrullinemia. </p><p>Seidl et al. (2024) generated a morpholino knockdown in zebrafish for ass1. The mutant fish had disorganized midbrain structures in the larval phase and reduced brain size. Neurod1 (601724) and elavl3 (603458) expression were reduced in mutant larvae, consistent with abnormal differentiation of neural progenitor cells. The mutant zebrafish had elevated citrulline and reduced arginine compared to wildtype fish, but ammonia was not elevated. Treating wildtype larvae with L-citrulline did not induce the brain defects observed in the ass1 knockdown fish. Seidl et al. (2024) hypothesized that ASS1 may have a moonlighting effect in brain development distinct from its role in the urea cycle. </p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>19 Selected Examples):</strong>
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<span class="mim-font">
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<strong>.0001 CITRULLINEMIA, CLASSIC</strong>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, EX5DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000006693
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1989) demonstrated deletion of exon 5 in a case of citrullinemia (215700). Kobayashi et al. (1995) stated that this represented deletion of 3 to 4 kb, including the 189-bp exon 5. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, EX6DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000006694
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1989) demonstrated deletion of exon 6 in the ASS gene in a case of citrullinemia (215700). Kobayashi et al. (1995) stated that this is a deletion of 2-3 kb, including the 57-bp exon 6. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, IVS6AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs751930594,
|
|
|
|
|
|
gnomAD: rs751930594,
|
|
|
|
|
|
ClinVar: RCV000179704, RCV000723844, RCV001388057
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1989) demonstrated deletion of exon 7 in the ASS gene in a case of citrullinemia (215700). Kobayashi et al. (1995) found that among Japanese patients with classic citrullinemia, the deletion of exon 7 accounted for 19 of 33 mutant alleles. The mutation is an A-to-G transition at the second nucleotide upstream for the acceptor splice-cleavage site within the 3-prime splice site of intron 6 and creates a new cleavage site for MspI, allowing detection by a combination of PCR and MspI RFLP analysis. Kobayashi et al. (1995) confirmed that 9 patients with type III citrullinemia were homozygotes or compound heterozygotes for the exon 7 deletion. Although undetectable ASS protein is the criterion of type III citrullinemia, a very low amount of ASS crossreacting material was detected in the liver of a patient with this form of the disease. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, GLY14SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908636,
|
|
|
|
|
|
gnomAD: rs121908636,
|
|
|
|
|
|
ClinVar: RCV000006696, RCV001376548
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1989) demonstrated a change in codon 14 of the ASS gene, GGC (gly) to AGC (ser), in a case of citrullinemia (215700).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, ARG157HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908637,
|
|
|
|
|
|
gnomAD: rs121908637,
|
|
|
|
|
|
ClinVar: RCV000006697, RCV000259104, RCV001376613
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1989) demonstrated a change in codon 157 of the ASS gene, CGC (arg) to CAC (his), in a case of citrullinemia (215700).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, SER180ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908638,
|
|
|
|
|
|
gnomAD: rs121908638,
|
|
|
|
|
|
ClinVar: RCV000006698, RCV000185782, RCV001376618
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1989) demonstrated a change in codon 180 in the ASS gene, AGC (ser) to AAC (asn), in a case of citrullinemia (215700).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, GLY324SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908639,
|
|
|
|
|
|
gnomAD: rs121908639,
|
|
|
|
|
|
ClinVar: RCV000006699, RCV001376631, RCV001531743, RCV003934804
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1989) demonstrated change in codon 324 in the ASS gene, GGT (gly) to AGT (ser), in a case of citrullinemia (215700).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, ARG363TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908640,
|
|
|
|
|
|
gnomAD: rs121908640,
|
|
|
|
|
|
ClinVar: RCV000006700, RCV000185787, RCV001376637
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1989) demonstrated a change in codon 363 in the ASS gene, CGG (arg) to TGG (trp), in a case of citrullinemia (215700).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, GLY390ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908641,
|
|
|
|
|
|
gnomAD: rs121908641,
|
|
|
|
|
|
ClinVar: RCV000006701, RCV000185789, RCV001376575, RCV002512846
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1989) demonstrated a change in codon 390 in the ASS gene, GGC (gly) to AGG (arg), in a case of citrullinemia (215700). Five of the 6 single base mutations involved C:G to T:A transitions in CpG dinucleotides.</p><p>In a review, Engel et al. (2009) stated that the G390R mutation is the most common mutation in patients with the classic phenotype of citrullinemia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, ARG304TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908642,
|
|
|
|
|
|
gnomAD: rs121908642,
|
|
|
|
|
|
ClinVar: RCV000006702, RCV000723845, RCV001376582
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1990) demonstrated a change in codon 304 in the ASS gene, CGG (arg) to TGG (trp), in a case of citrullinemia (215700). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, SER18LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908643,
|
|
|
|
|
|
gnomAD: rs121908643,
|
|
|
|
|
|
ClinVar: RCV000006703, RCV002512847, RCV004755716
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1991) demonstrated an S18L mutation due to a C-to-T transition in a CpG dinucleotide of the ASS gene in a case of citrullinemia (215700). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, ARG86CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908644,
|
|
|
|
|
|
gnomAD: rs121908644,
|
|
|
|
|
|
ClinVar: RCV000006704, RCV001376621, RCV001555941
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1991) described an R86C mutation resulting from a C-to-T transition in a CpG dinucleotide of the ASS gene in a case of citrullinemia (215700). They stated that 8 of 9 missense mutations causing citrullinemia involved similar transitions in CpG dinucleotides. Six of 9 missense mutations in humans occur in amino acid positions that are completely conserved in 4 mammalian species, yeast, and 3 bacterial species. Mutations causing human citrullinemia are extremely heterogeneous; all nonconsanguineous persons studied to 1991 had been found to be compound heterozygotes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, ARG279TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908645,
|
|
|
|
|
|
gnomAD: rs121908645,
|
|
|
|
|
|
ClinVar: RCV000006705, RCV001376581
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a citrullinemia (215700) patient carrying an RNA-negative allele, Li et al. (2001) described a C-to-T transition at nucleotide 835 in the cDNA of the ASS gene, converting the CGA arginine codon to a TGA termination codon within exon 12 (R279X). The patient was compound heterozygous for the R279X mutation and the IVS6-2A-G mutation (603470.0003). There was no indication of the R279X mutation leading to altered splicing, and the most likely defect responsible for the mRNA reduction appeared to be nonsense-mediated mRNA decay affecting the abundance of nucleus-associated mRNA. It was estimated that mRNA from the R279X allele was less than 2% of the normal level. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, ARG108LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35269064,
|
|
|
|
|
|
gnomAD: rs35269064,
|
|
|
|
|
|
ClinVar: RCV000006706, RCV000256315, RCV000436562, RCV001273804, RCV001705583
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with classic citrullinemia (215700), Haberle et al. (2002) identified compound heterozygosity for a G-to-T transversion at nucleotide 323 of the ASS gene, resulting in an arg108-to-leu substitution, and a G-to-A transition at the +5 position downstream of the intron 13 donor site (603470.0017). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 CITRULLINEMIA, MILD</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASS1, TRP179ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908646,
|
|
|
|
|
|
gnomAD: rs121908646,
|
|
|
|
|
|
ClinVar: RCV000006707, RCV000256312, RCV000291508, RCV001376556, RCV003914816
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 sibs of each of 2 families, Haberle et al. (2002) identified a T-to-C transition at nucleotide 535 of the ASS gene, resulting in a trp179-to-arg substitution, associated with mild citrullinemia (see 215700). Both families were of Turkish extraction and the parents were consanguineous. Three of the affected children were asymptomatic. The fourth had mild mental retardation. There was no hyperammonemia in any of the 4. Enzyme assays showed levels of activity varying from 7 to 26%. The plasma levels of citrulline were considerably lower than in classic citrullinemia. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 CITRULLINEMIA, MILD</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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ASS1, GLY362VAL
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<br />
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|
|
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SNP: rs121908647,
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|
|
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gnomAD: rs121908647,
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|
|
|
|
|
ClinVar: RCV000006708, RCV000256322, RCV000418697, RCV001851704
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</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a Turkish family with consanguineous parents, Haberle et al. (2002) found that asymptomatic citrullinemia (see 215700) was caused by a G-to-T transversion at nucleotide 1085 of the ASS gene, resulting in a gly362-to-val substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0017 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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ASS1, IVS6, G-A, +5
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<br />
|
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|
|
SNP: rs372128852,
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|
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gnomAD: rs372128852,
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|
|
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ClinVar: RCV000256325, RCV001376552, RCV002252073, RCV003324739
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|
|
</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
|
|
<p>See 603470.0014 and Haberle et al. (2002). </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
ASS1, IVS15, G-C, -1
|
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|
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<br />
|
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|
|
SNP: rs727503814,
|
|
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|
|
|
gnomAD: rs727503814,
|
|
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|
|
|
ClinVar: RCV000152808, RCV000723939, RCV001376639
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient with neonatal citrullinemia (215700), Kobayashi et al. (1990) found a G-to-C transversion in the last nucleotide of intron 15 of the ASS gene. The mutation resulted in a 7-base deletion in exon 16 of ASS mRNA. </p><p>Potter et al. (2004) found this mutation in compound heterozygosity with a novel missense mutation (603470.0019) in an adult female patient, diagnosed through newborn screening, who underwent 2 successful pregnancies. </p><p>Gucer et al. (2004) identified this homozygous splice site mutation in a girl with severe neonatal citrullinemia who died at age 17 months of early liver cirrhosis and hepatic encephalopathy. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 CITRULLINEMIA, CLASSIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
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ASS1, LYS310GLN
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<br />
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|
|
SNP: rs121908648,
|
|
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|
|
|
gnomAD: rs121908648,
|
|
|
|
|
|
ClinVar: RCV000006711, RCV002512848
|
|
|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an adult female with citrullinemia (215700) who had been diagnosed through newborn screening and had been described by Whelan et al. (1976), Potter et al. (2004) found compound heterozygosity for mutations in the ASS gene. A previously described splice site mutation was found in intron 15 (603470.0018); on the other allele a novel missense mutation, a 928A-C transversion in exon 13 resulting in glutamine substituting lysine at codon 310 (K310Q), was found. When described as a child her lack of symptoms despite high citrulline levels was novel. She underwent 2 successful pregnancies. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Beaudet et al. (1986); Beaudet et al. (1981); Carritt (1977); Daiger
|
|
et al. (1984); Daiger et al. (1981); Daiger et al. (1982); Kobayashi
|
|
et al. (1987); Kobayashi et al. (1986); Sase et al. (1985)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
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|
<div>
|
|
<ol>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beaudet, A. L., O'Brien, W. E., Bock, H.-G. O., Freytag, S. O., Su, T.-S.
|
|
<strong>The human argininosuccinate synthetase locus and citrullinemia.</strong>
|
|
Adv. Hum. Genet. 15: 161-196, 1986.
|
|
|
|
|
|
[PubMed: 3513483]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/978-1-4615-8356-1_3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beaudet, A. L., Su, T.-S., Bock, H.-G., D'Eustachio, P., Ruddle, F. H., O'Brien, W. E.
|
|
<strong>Use of a cloned cDNA to study human argininosuccinate synthetase. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 33: 36A only, 1981.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beaudet, A. L., Su, T.-S., O'Brien, W. E., D'Eustachio, P., Barker, P. E., Ruddle, F. H.
|
|
<strong>Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome.</strong>
|
|
Cell 30: 287-293, 1982.
|
|
|
|
|
|
[PubMed: 6897015]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(82)90034-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bock, H.-G. O., Su, T.-S., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Sequence for human argininosuccinate synthetase cDNA.</strong>
|
|
Nucleic Acids Res. 11: 6505-6512, 1983.
|
|
|
|
|
|
[PubMed: 6194510]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/11.18.6505]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carritt, B., Goldfarb, P. S. G., Hooper, M. L., Slack, C.
|
|
<strong>Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamster-human somatic cell hybrids.</strong>
|
|
Exp. Cell Res. 106: 71-78, 1977.
|
|
|
|
|
|
[PubMed: 852520]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0014-4827(77)90242-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carritt, B.
|
|
<strong>Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9.</strong>
|
|
Cytogenet. Cell Genet. 19: 44-48, 1977.
|
|
|
|
|
|
[PubMed: 891260]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000130793]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cathelineau, L., Pham Dinh, D., Briand, P., Kamoun, P.
|
|
<strong>Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.</strong>
|
|
Hum. Genet. 57: 282-284, 1981.
|
|
|
|
|
|
[PubMed: 7250970]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00278945]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Daiger, S. P., Hoffman, N. S., Wildin, R. S., Su, T.-S.
|
|
<strong>Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).</strong>
|
|
Am. J. Hum. Genet. 36: 736-749, 1984.
|
|
|
|
|
|
[PubMed: 6089548]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Daiger, S. P., Wildin, R. S., Su, T.-S.
|
|
<strong>Polymorphic variants of restriction fragments of human DNA detected with a probe to argininosuccinate synthetase. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 33: 136A only, 1981.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Daiger, S. P., Wildin, R. S., Su, T.-S.
|
|
<strong>Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase.</strong>
|
|
Nature 298: 682-684, 1982.
|
|
|
|
|
|
[PubMed: 7099264]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/298682a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dennis, J. A., Healy, P. J., Beaudet, A. L., O'Brien, W. E.
|
|
<strong>Molecular definition of bovine argininosuccinate synthetase deficiency.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.
|
|
|
|
|
|
[PubMed: 2813370]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.86.20.7947]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Engel, K., Hohne, W., Haberle, J.
|
|
<strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong>
|
|
Hum. Mutat. 30: 300-307, 2009.
|
|
|
|
|
|
[PubMed: 19006241]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20847]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gao, H.-Z., Kobayashi, K., Tabata, A., Tsuge, H., Iijima, M., Yasuda, T., Kalkanoglu, H. S., Dursun, A., Tokatli, A., Coskun, T., Trefz, F. K., Skladal, D., and 24 others.
|
|
<strong>Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.</strong>
|
|
Hum. Mutat. 22: 24-34, 2003.
|
|
|
|
|
|
[PubMed: 12815590]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.10230]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gucer, S., Asan, E., Atilla, P., Tokatli, A., Caglar, M.
|
|
<strong>Early cirrhosis in a patient with type I citrullinaemia (CTLN1).</strong>
|
|
J. Inherit. Metab. Dis. 27: 541-542, 2004.
|
|
|
|
|
|
[PubMed: 15334737]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1023/b:boli.0000037401.63596.de]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G.
|
|
<strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong>
|
|
Hum. Genet. 110: 327-333, 2002.
|
|
|
|
|
|
[PubMed: 11941481]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-002-0686-6]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harper, P. A., Healy, P. J., Dennis, J. A., O'Brien, J. J., Rayward, D. H.
|
|
<strong>Citrullinaemia as a cause of neurological disease in neonatal Friesian calves.</strong>
|
|
Aust. Vet. J. 63: 378-379, 1986.
|
|
|
|
|
|
[PubMed: 3827779]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1751-0813.1986.tb02907.x]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harper, P. A. W., Healy, P. J., Dennis, J. A.
|
|
<strong>Animal model of human disease: citrullinemia (argininosuccinate synthetase deficiency).</strong>
|
|
Am. J. Path. 135: 1213-1215, 1989.
|
|
|
|
|
|
[PubMed: 2596577]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jackson, M. J., Surh, L. C., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2.</strong>
|
|
Genomics 6: 545-547, 1990.
|
|
|
|
|
|
[PubMed: 1970331]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(90)90484-c]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Ichiki, H., Saheki, T., Tatsuno, M., Uchiyama, C., Nukada, O., Yoda, T.
|
|
<strong>Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.</strong>
|
|
Hum. Genet. 76: 27-32, 1987.
|
|
|
|
|
|
[PubMed: 3570300]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00283045]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.</strong>
|
|
J. Biol. Chem. 265: 11361-11367, 1990.
|
|
|
|
|
|
[PubMed: 2358466]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T.
|
|
<strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong>
|
|
Hum. Genet. 96: 454-463, 1995.
|
|
|
|
|
|
[PubMed: 7557970]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00191806]
|
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|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Rosenbloom, C., Beaudet, A. L., O'Brien, W. E.
|
|
<strong>Additional mutations in argininosuccinate synthetase causing citrullinemia.</strong>
|
|
Molec. Biol. Med. 8: 95-100, 1991.
|
|
|
|
|
|
[PubMed: 1943692]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Saheki, T., Imamura, Y., Noda, T., Inoue, I., Matuo, S., Hagihara, S., Nomiyama, H., Jinno, Y., Shimada, K.
|
|
<strong>Messenger RNA coding for argininosuccinate synthetase in citrullinemia.</strong>
|
|
Am. J. Hum. Genet. 38: 667-680, 1986.
|
|
|
|
|
|
[PubMed: 3459354]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Shaheen, N., Terazono, H., Saheki, T.
|
|
<strong>Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.</strong>
|
|
Am. J. Hum. Genet. 55: 1103-1112, 1994. Note: Erratum: Am. J. Hum. Genet. 56: 356 only, 1995.
|
|
|
|
|
|
[PubMed: 7977368]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Li, C.-M., Chao, H.-K., Liu, Y.-F., Su, T.-S.
|
|
<strong>A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.</strong>
|
|
Europ. J. Hum. Genet. 9: 685-689, 2001.
|
|
|
|
|
|
[PubMed: 11571557]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200695]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McCarrey, J. R., Riggs, A. D.
|
|
<strong>Determinator-inhibitor pairs as a mechanism for threshold setting in development: a possible function for pseudogenes.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 679-683, 1986.
|
|
|
|
|
|
[PubMed: 2418440]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.3.679]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Northrup, H., Lathrop, M., Lu, S.-Y., Daiger, S. P., Beaudet, A. L., O'Brien, W. E.
|
|
<strong>Multilocus linkage analysis with the human argininosuccinate synthetase gene.</strong>
|
|
Genomics 5: 442-444, 1989.
|
|
|
|
|
|
[PubMed: 2575581]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(89)90007-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Potter, M. A., Zeesman, S., Brennan, B., Kobayashi, K., Gao, H.-Z., Tabata, A., Saheki, T., Whelan, D. T.
|
|
<strong>Pregnancy in a healthy woman with untreated citrullinemia.</strong>
|
|
Am. J. Med. Genet. 129A: 77-82, 2004.
|
|
|
|
|
|
[PubMed: 15266621]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.20559]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rabinovich, S., Adler, L., Yizhak, K., Sarver, A., Silberman, A., Agron, S., Stettner, N., Sun, Q., Brandis, A., Helbling, D., Korman, S., Itzkovitz, S., Dimmock, D., Ulitsky, I., Nagamani, S. C. S., Ruppin, E., Erez, A.
|
|
<strong>Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.</strong>
|
|
Nature 527: 379-383, 2015.
|
|
|
|
|
|
[PubMed: 26560030]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature15529]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sase, M., Kobayashi, K., Imamura, Y., Saheki, T., Nakano, K., Miura, S., Mori, M.
|
|
<strong>Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia.</strong>
|
|
Hum. Genet. 69: 130-134, 1985.
|
|
|
|
|
|
[PubMed: 3972414]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00293282]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Seidl, M. J., Scharre, S., Posset, R., Druck, A. C., Epp, F., Okun, J. G., Dimitrov, B., Hoffmann, G. F., Kolker, S., Zielonka, M.
|
|
<strong>ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.</strong>
|
|
Molec. Genet. Metab. 141: 108097, 2024.
|
|
|
|
|
|
[PubMed: 38113552]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2023.108097]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Su, T.-S., Nussbaum, R. L., Airhart, S., Ledbetter, D. H., Mohandas, T., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.</strong>
|
|
Am. J. Hum. Genet. 36: 954-964, 1984.
|
|
|
|
|
|
[PubMed: 6093508]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Todd, S., Naylor, S. L.
|
|
<strong>New chromosomal mapping assignments for argininosuccinate synthetase pseudogene 1, interferon-beta-3 gene, and the diazepam binding inhibitor gene.</strong>
|
|
Somat. Cell Molec. Genet. 18: 381-385, 1992.
|
|
|
|
|
|
[PubMed: 1440058]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01235761]
|
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</p>
|
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</li>
|
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|
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<li>
|
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<p class="mim-text-font">
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Whelan, D. T., Brusso, T., Spate, M.
|
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<strong>Citrullinemia: phenotypic variations.</strong>
|
|
Pediatrics 57: 935-941, 1976.
|
|
|
|
|
|
[PubMed: 934749]
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