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Entry
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- *608313 - ARGINASE 1; ARG1
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- OMIM
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<p>
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<span class="h4">*608313</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="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</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/608313">Table View</a>
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<li role="presentation">
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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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<li role="presentation">
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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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000118520;t=ENST00000368087" 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=383" 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=608313" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000118520;t=ENST00000368087" 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_000045,NM_001244438,NM_001369020,NR_160934" 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_000045" 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=608313" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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<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=01947&isoform_id=01947_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/ARG1" 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/178995,1197498,10947139,12230985,13529083,18089067,18535612,30582321,119568438,119568439,119568440,119568441,346986435,1590643879" 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/P05089" 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>
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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=383" 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=ENSG00000118520;t=ENST00000368087" 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=ARG1" 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=ARG1" 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+383" 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/ARG1" 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:383" 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/383" 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=chr6&hgg_gene=ENST00000368087.8&hgg_start=131573226&hgg_end=131584329&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/gene-dosage/HGNC:663" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:663" 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/arg1" 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=608313[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=608313[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/ENSG00000118520" 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=ARG1" 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=ARG1" 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=ARG1" 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="http://www.LOVD.nl/ARG1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ARG1&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/PA24947" 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:663" 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/FBgn0023535.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:88070" 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/ARG1#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:88070" 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/383/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://www.orthodb.org/?ncbi=383" 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://wormbase.org/db/gene/gene?name=WBGene00020658;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040724-181" 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:383" 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=ARG1&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> 23501004<br />
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<strong>ICD10CM:</strong> E72.21<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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608313
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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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ARGINASE 1; ARG1
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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>
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<span class="mim-font">
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ARGINASE, LIVER
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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>
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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>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ARG1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ARG1</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>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/6/856?start=-3&limit=10&highlight=856">6q23.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:131573226-131584329&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'})">6:131,573,226-131,584,329</a> </span>
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</em>
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</strong>
|
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<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>
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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="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/856?start=-3&limit=10&highlight=856">
|
|
6q23.2
|
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</a>
|
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</span>
|
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</td>
|
|
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|
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<td>
|
|
<span class="mim-font">
|
|
Argininemia
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/207800"> 207800 </a>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608313" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608313" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<p>Arginase (<a href="https://enzyme.expasy.org/EC/3.5.3.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.5.3.1</a>) catalyzes the last step of the urea cycle. It is present in 2 forms, specified by separate gene loci, ARG1 and ARG2 (<a href="/entry/107830">107830</a>). The isoform encoded by ARG1, referred to as the liver, or A-I, isoform, contributes 98% of the arginase activity in liver but is also present in red cells. ARG2 encodes the mitochondrial, or A-II, isoform, which predominates in kidney.</p>
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<p>Using a rat liver ARG1 cDNA clone to probe a human liver cDNA library, <a href="#9" class="mim-tip-reference" title="Haraguchi, Y., Takiguchi, M., Amaya, Y., Kawamoto, S., Matsuda, I., Mori, M. <strong>Molecular cloning and nucleotide sequence of cDNA for human liver arginase.</strong> Proc. Nat. Acad. Sci. 84: 412-415, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3540966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3540966</a>] [<a href="https://doi.org/10.1073/pnas.84.2.412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3540966">Haraguchi et al. (1987)</a> isolated and characterized a cDNA corresponding to the ARG1 gene. The deduced 322-amino acid polypeptide has a molecular mass of 34.7 kD. A 1.6-kb mRNA was detected in liver. The amino acid sequence was 87% and 41% identical to those of the rat liver and yeast enzymes, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3540966" 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>By immunologic studies, <a href="#17" class="mim-tip-reference" title="Spector, E. B., Rice, S. C. H., Cederbaum, S. D. <strong>Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients.</strong> Pediat. Res. 17: 941-944, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6419196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6419196</a>] [<a href="https://doi.org/10.1203/00006450-198312000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6419196">Spector et al. (1983)</a> found that 90% of the arginase in red blood cell and liver was precipitated by the antibody, whereas only 50% of the arginase in kidney, brain, and the gastrointestinal tract reacted with it. Patients with arginase deficiency were found to have normal amounts of enzymatically inactive arginase in their red blood cells, whereas enzymatically active arginase was detected in kidney biopsies. The findings indicated 2 types of arginase protein defined by 2 genetic loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6419196" 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="#2" class="mim-tip-reference" title="Colegio, O. R., Chu, N.-Q., Szabo, A. L., Chu, T., Rhebergen, A. M., Jairam, V., Cyrus, N., Brokowski, C. E., Eisenbarth, S. C., Phillips, G. M., Cline, G. W., Phillips, A. J., Medzhitov, R. <strong>Functional polarization of tumour-associated macrophages by tumour-derived lactic acid.</strong> Nature 513: 559-563, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25043024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25043024</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25043024[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/nature13490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25043024">Colegio et al. (2014)</a> showed that lactic acid produced by tumor cells, as a byproduct of aerobic or anaerobic glycolysis, has a critical function in signaling, through inducing the expression of vascular endothelial growth factor (VEGF; <a href="/entry/192240">192240</a>) and the M2-like polarization of tumor-associated macrophages. The authors also demonstrated that this effect of lactic acid is mediated by hypoxia-inducible factor 1-alpha (HIF1A; <a href="/entry/603348">603348</a>). Finally, they showed that the lactate-induced expression of arginase-1 by macrophages has an important role in tumor growth. <a href="#2" class="mim-tip-reference" title="Colegio, O. R., Chu, N.-Q., Szabo, A. L., Chu, T., Rhebergen, A. M., Jairam, V., Cyrus, N., Brokowski, C. E., Eisenbarth, S. C., Phillips, G. M., Cline, G. W., Phillips, A. J., Medzhitov, R. <strong>Functional polarization of tumour-associated macrophages by tumour-derived lactic acid.</strong> Nature 513: 559-563, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25043024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25043024</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25043024[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/nature13490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25043024">Colegio et al. (2014)</a> concluded that their findings identified a mechanism of communication between macrophages and their client cells, including tumor cells. This communication likely evolved to promote homeostasis in normal tissues but can also be engaged in tumors to promote their growth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25043024" 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="Poillet-Perez, L., Xie, X., Zhan, L., Yang, Y., Sharp, D. W., Hu, Z. S., Su, X., Maganti, A., Jiang, C., Lu, W., Zheng, H., Bosenberg, M. W., Mehnert, J. M., Guo, J. Y., Lattime, E., Rabinowitz, J. D., White, E. <strong>Autophagy maintains tumour growth through circulating arginine.</strong> Nature 563: 569-573, 2018. Note: Erratum: Nature 565: E3, 2019. Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30429607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30429607</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30429607[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/s41586-018-0697-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30429607">Poillet-Perez et al. (2018)</a> demonstrated that host-specific deletion of Atg7 (<a href="/entry/608760">608760</a>) impairs the growth of multiple allografted tumors, although not all tumor lines were sensitive to host autophagy status. Loss of autophagy in the host was associated with a reduction in circulating arginine, and the sensitive tumor cell lines were arginine auxotrophs owing to the lack of expression of the enzyme argininosuccinate synthase 1. Serum proteomic analysis identified the arginine-degrading enzyme Arg1 in the circulation of Atg7-deficient hosts, and in vivo arginine metabolic tracing demonstrated that serum arginine was degraded to ornithine. ARG1 is predominantly expressed in the liver and can be released from hepatocytes into the circulation. Liver-specific deletion of Atg7 produced circulating Arg1, and reduced both serum arginine and tumor growth. Deletion of Atg5 (<a href="/entry/604261">604261</a>) in the host similarly regulated circulating arginine and suppressed tumorigenesis, which demonstrated that this phenotype is specific to autophagy function rather than to deletion of Atg7. Dietary supplementation of Atg7-deficient hosts with arginine partially restored levels of circulating arginine and tumor growth. <a href="#12" class="mim-tip-reference" title="Poillet-Perez, L., Xie, X., Zhan, L., Yang, Y., Sharp, D. W., Hu, Z. S., Su, X., Maganti, A., Jiang, C., Lu, W., Zheng, H., Bosenberg, M. W., Mehnert, J. M., Guo, J. Y., Lattime, E., Rabinowitz, J. D., White, E. <strong>Autophagy maintains tumour growth through circulating arginine.</strong> Nature 563: 569-573, 2018. Note: Erratum: Nature 565: E3, 2019. Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30429607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30429607</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30429607[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/s41586-018-0697-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30429607">Poillet-Perez et al. (2018)</a> concluded that defective autophagy in the host leads to the release of ARG1 from the liver and the degradation of circulating arginine, which is essential for tumor growth, identifying a metabolic vulnerability of cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30429607" 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="Li, L., Mao, Y., Zhao, L., Li, L., Wu, J., Zhao, M., Du, W., Yu, L., Jiang, P. <strong>p53 regulation of ammonia metabolism through urea cycle controls polyamine biosynthesis.</strong> Nature 567: 253-256, 2019. Note: Erratum: Nature 569: E10, 2019. Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30842655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30842655</a>] [<a href="https://doi.org/10.1038/s41586-019-0996-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30842655">Li et al. (2019)</a> reported that the tumor suppressor p53 (<a href="/entry/191170">191170</a>) regulates ammonia metabolism by repressing the urea cycle. Through transcriptional downregulation of CPS1 (<a href="/entry/608307">608307</a>), OTC (<a href="/entry/300461">300461</a>), and ARG1, p53 suppresses ureagenesis and elimination of ammonia in vitro and in vivo, leading to the inhibition of tumor growth. Conversely, downregulation of these genes reciprocally activates p53 by MDM2 (<a href="/entry/164785">164785</a>)-mediated mechanism(s). Furthermore, the accumulation of ammonia causes a significant decline in mRNA translation of the polyamine biosynthetic rate-limiting enzyme ODC (ODC1; <a href="/entry/165640">165640</a>), thereby inhibiting the biosynthesis of polyamine and cell proliferation. <a href="#11" class="mim-tip-reference" title="Li, L., Mao, Y., Zhao, L., Li, L., Wu, J., Zhao, M., Du, W., Yu, L., Jiang, P. <strong>p53 regulation of ammonia metabolism through urea cycle controls polyamine biosynthesis.</strong> Nature 567: 253-256, 2019. Note: Erratum: Nature 569: E10, 2019. Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30842655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30842655</a>] [<a href="https://doi.org/10.1038/s41586-019-0996-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30842655">Li et al. (2019)</a> conclude that together, their findings linked p53 to ureagenesis and ammonia metabolism, and further revealed a role for ammonia in controlling polyamine biosynthesis and cell proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30842655" 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="#20" class="mim-tip-reference" title="Takiguchi, M., Haraguchi, Y., Mori, M. <strong>Human liver-type arginase gene: structure of the gene and analysis of the promoter region.</strong> Nucleic Acids Res. 16: 8789-8802, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174433</a>] [<a href="https://doi.org/10.1093/nar/16.18.8789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174433">Takiguchi et al. (1988)</a> determined that the arginase gene contains 8 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3174433" 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="#16" class="mim-tip-reference" title="Sparkes, R. S., Dizikes, G. J., Klisak, I., Grody, W. W., Mohandas, T., Heinzmann, C., Zollman, S., Lusis, A. J., Cederbaum, S. D. <strong>The gene for human liver arginase (ARG1) is assigned to chromosome band 6q23.</strong> Am. J. Hum. Genet. 39: 186-193, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3752085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3752085</a>]" pmid="3752085">Sparkes et al. (1986)</a> mapped the human liver arginase gene to chromosome 6q23 by a combination of somatic cell hybrid analysis and in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3752085" 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 a Japanese girl with argininemia (<a href="/entry/207800">207800</a>), <a href="#8" class="mim-tip-reference" title="Haraguchi, Y., Aparicio, J. M., Takiguchi, M., Akaboshi, I., Yoshino, M., Mori, M., Matsuda, I. <strong>Molecular basis of argininemia: identification of two discrete frame-shift deletions in the liver-type arginase gene.</strong> J. Clin. Invest. 86: 347-350, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365823</a>] [<a href="https://doi.org/10.1172/JCI114707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365823">Haraguchi et al. (1990)</a> found compound heterozygosity for 2 frameshift deletions in the ARG1 gene (<a href="#0001">608313.0001</a>-<a href="#0002">608313.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365823" 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 patients with arginase deficiency, <a href="#7" class="mim-tip-reference" title="Grody, W. W., Klein, D., Dodson, A. E., Kern, R. M., Wissmann, P. B., Goodman, B. K., Bassand, P., Marescau, B., Kang, S.-S., Leonard, J. V., Cederbaum, S. D. <strong>Molecular genetic study of human arginase deficiency.</strong> Am. J. Hum. Genet. 50: 1281-1290, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598908</a>]" pmid="1598908">Grody et al. (1992)</a> identified 2 mutations in the ARG1 gene (<a href="#0003">608313.0003</a>-<a href="#0004">608313.0004</a>). They concluded that arginase deficiency is heterogeneous at the genotypic level, generally encompassing a variety of point mutations rather than substantial structural gene deletions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598908" 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="#5" class="mim-tip-reference" title="Diez-Fernandez, C., Rufenacht, V., Gemperle, C., Fingerhut, R., Haberle, J. <strong>Mutations and common variants in the human arginase 1 (ARG1) gene: impact on patients diagnostics, and protein structure considerations.</strong> Hum. Mutat. 39: 1029-1050, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29726057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29726057</a>] [<a href="https://doi.org/10.1002/humu.23545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29726057">Diez-Fernandez et al. (2018)</a> summarized data on all published and 12 novel ARG1 mutations, totaling 66 mutations from 112 patients. Missense mutations were the most common (30), followed by deletions (15), splicing (10), nonsense (7), duplications (2), insertions (1), and a translation initiation codon mutation. Most of the mutations (48) were found in single families, with 15 in up to 4 families and only 3 mutations (T134I; G235R, <a href="#0006">608313.0006</a>; and R21X, <a href="#0012">608313.0012</a>) found in 5, 14, and 16 families, respectively. The 30 missense mutations were distributed unevenly throughout the 8 exons, clustering in exons 1, 4, and 7. No clear genotype-phenotype correlation was observed. Even patients carrying homozygous 'devastating' mutations (e.g., nonsense and splicing) could develop later onset of the disease. Most ARG1 mutations led to late-onset disease; 6 mutations were associated with neonatal-onset disease (I8K, G106R, c.466-2A-G, c.77delA, c.262_265delAAGA (<a href="#0001">608313.0001</a>), and c.647_648ins32). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29726057" 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="#14" class="mim-tip-reference" title="Shih, V. E., Jones, C. T., Levy, H. L., Madigan, P. M. <strong>Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver.</strong> Pediat. Res. 6: 548-551, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4625814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4625814</a>] [<a href="https://doi.org/10.1203/00006450-197206000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4625814">Shih et al. (1972)</a> found high blood arginine levels and low red cell arginase in Macaca fascicularis monkeys in the New England Regional Primate Center, indicating arginase deficiency. <a href="#21" class="mim-tip-reference" title="Terasaki, K., Spector, E. B., Hendrickson, R., Cederbaum, S. D. <strong>Properties of arginase from liver of Macaca fascicularis: comparison of normals with red blood cell arginase deficient monkeys.</strong> Biochem. Genet. 18: 829-841, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7225081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7225081</a>] [<a href="https://doi.org/10.1007/BF00500116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7225081">Terasaki et al. (1980)</a> showed that the liver enzyme was identical in RBC-normal and RBC-deficient animals. <a href="#18" class="mim-tip-reference" title="Spector, E. B., Rice, S. C. H., Kern, R. M., Hendrickson, R., Cederbaum, S. D. <strong>Comparison of arginase activity in red blood cells of lower mammals, primates, and man: evolution to high activity in primates.</strong> Am. J. Hum. Genet. 37: 1138-1145, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3936352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3936352</a>]" pmid="3936352">Spector et al. (1985)</a> confirmed the occurrence of red cell arginase deficiency in M. fascicularis trapped in the wild in various areas and showed that most lower animals (mouse, rat, rabbit, cat, dog) have a low level of red cell arginase. Baboon has a very low level, and orangutan and gorilla have relatively low levels. However, the level is high in the chimpanzee and in the cow. <a href="#18" class="mim-tip-reference" title="Spector, E. B., Rice, S. C. H., Kern, R. M., Hendrickson, R., Cederbaum, S. D. <strong>Comparison of arginase activity in red blood cells of lower mammals, primates, and man: evolution to high activity in primates.</strong> Am. J. Hum. Genet. 37: 1138-1145, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3936352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3936352</a>]" pmid="3936352">Spector et al. (1985)</a> suggested that upregulation of red cell arginase in higher primates has evolved under positive selection pressure after having been extinguished in lower animals. The mechanism of the regulation may be in the gene itself or its immediate vicinity because it operates in cis and not in trans. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7225081+4625814+3936352" 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="#10" class="mim-tip-reference" title="Iyer, R. K., Yoo, P. K., Kern, R. M., Rozengurt, N., Tsoa, R., O'Brien, W. E., Yu, H., Grody, W. W., Cederbaum, S. D. <strong>Mouse model for human arginase deficiency.</strong> Molec. Cell. Biol. 22: 4491-4498, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12052859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12052859</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12052859[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/10.1128/MCB.22.13.4491-4498.2002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12052859">Iyer et al. (2002)</a> found that Arg1-knockout mice were born in a nonmendelian ratio, but the genotypes were in Hardy-Weinberg equilibrium, suggesting sperm lacking Arg1 may be less fit to participate in fertilization. Knockout mice exhibited severe hyperammonemia and died between postnatal days 10 and 14. Livers of Arg1-deficient animals showed hepatocyte abnormalities, including cell swelling and inclusion. Plasma amino acid analysis showed that the mean arginine level in Arg1-knockout mice was 4-fold and 3-fold greater than in wildtype and heterozygous mice, respectively. Mean proline and ornithine levels were reduced, as were plasma concentrations of the branched-chain amino acids valine, isoleucine, and leucine. Glutamic acid, citrulline, and histidine levels were about 1.5-fold higher than in phenotypically normal animals. <a href="#10" class="mim-tip-reference" title="Iyer, R. K., Yoo, P. K., Kern, R. M., Rozengurt, N., Tsoa, R., O'Brien, W. E., Yu, H., Grody, W. W., Cederbaum, S. D. <strong>Mouse model for human arginase deficiency.</strong> Molec. Cell. Biol. 22: 4491-4498, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12052859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12052859</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12052859[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/10.1128/MCB.22.13.4491-4498.2002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12052859">Iyer et al. (2002)</a> concluded that Arg1-knockout mice duplicate several pathobiologic aspects of human argininemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12052859" 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="#3" class="mim-tip-reference" title="Deignan, J. L., Livesay, J. C., Yoo, P. K., Goodman, S. I., O'Brien, W. E., Iyer, R. K., Cederbaum, S. D., Grody, W. W. <strong>Ornithine deficiency in the arginase double knockout mouse.</strong> Molec. Genet. Metab. 89: 87-96, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16753325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16753325</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16753325">Deignan et al. (2006)</a> created mice with individual and combined knockout of Arg1 and Arg2. Arg1 knockout mice died by 14 days of age from hyperammonemia, while Arg2 knockout mice had no obvious phenotype. Arg1/Arg2 double-knockout mice exhibited the phenotype of the Arg1 knockout mice, with the additional absence of Arg2 not exacerbating the phenotype. Plasma amino acid measurements in the double-knockout mice showed arginine levels increased roughly 100-fold and ornithine decreased roughly 10-fold compared with wildtype. Arginine and ornithine levels were also altered in liver, kidney, brain, and small intestine in the double-knockout mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16753325" 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="#4" class="mim-tip-reference" title="Deignan, J. L., Marescau, B., Livesay, J. C., Iyer, R. K., De Deyn, P. P., Cederbaum, S. D., Grody, W. W. <strong>Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.</strong> Molec. Genet. Metab. 93: 172-178, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17997338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17997338</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17997338">Deignan et al. (2008)</a> stated that several guanidino compounds, which are direct or indirect metabolites of arginine, are elevated in the blood of uremic patients and in the plasma and cerebrospinal fluid of hyperargininemic patients. They assayed several guanidino compounds in arginase single- and double-knockout mice and found that alpha-keto-delta-guanidinovaleric acid, alpha-N-acetylarginine, and argininic acid were increased in brain tissue from Arg1 knockout and Arg1/Arg2 double-knockout animals. Several guanidino compounds were also elevated in plasma, liver, and kidney. <a href="#4" class="mim-tip-reference" title="Deignan, J. L., Marescau, B., Livesay, J. C., Iyer, R. K., De Deyn, P. P., Cederbaum, S. D., Grody, W. W. <strong>Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.</strong> Molec. Genet. Metab. 93: 172-178, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17997338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17997338</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17997338">Deignan et al. (2008)</a> concluded that guanidino compounds may be the neuropathogenic agents responsible for complications in arginase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17997338" 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>Chikungunya virus (CHIKV) and Ross River virus (RRV) are arthritogenic alphaviruses. <a href="#19" class="mim-tip-reference" title="Stoermer, K. A., Burrack, A., Oko, L., Montgomery, S. A., Borst, L. B., Gill, R. G., Morrison, T. E. <strong>Genetic ablation of arginase 1 in macrophages and neutrophils enhances clearance of an arthritogenic alphavirus.</strong> J. Immun. 189: 4047-4059, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22972923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22972923</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22972923[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/10.4049/jimmunol.1201240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22972923">Stoermer et al. (2012)</a> found that musculoskeletal inflammatory lesions in CHIKV- or RRV-infected mice, as well as macrophages present in those lesions, expressed high levels of Arg1 and Ym1 (Chi3l3). Arg1 and Ym1 are markers of alternatively activated immunoregulatory (M2) macrophages that have high phagocytic capacity and dampen inflammation. The macrophages of infected mice lacked Fizz1 (see RETNLB; <a href="/entry/605645">605645</a>), which is also a marker of murine M2 macrophages. Mice lacking expression of Arg1 specifically in macrophages and neutrophils had high expression of Ym1, low expression of Fizz1, dramatically reduced viral loads, and decreased inflammatory pathology in musculoskeletal tissues at late times after RRV infection. <a href="#19" class="mim-tip-reference" title="Stoermer, K. A., Burrack, A., Oko, L., Montgomery, S. A., Borst, L. B., Gill, R. G., Morrison, T. E. <strong>Genetic ablation of arginase 1 in macrophages and neutrophils enhances clearance of an arthritogenic alphavirus.</strong> J. Immun. 189: 4047-4059, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22972923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22972923</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22972923[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/10.4049/jimmunol.1201240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22972923">Stoermer et al. (2012)</a> concluded that CHIKV and RRV infection induce a unique myeloid cell activation program in inflamed musculoskeletal tissues that inhibits viral clearance and disease resolution in an ARG1-dependent manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22972923" 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 a Japanese girl with severe mental retardation, microcephaly, spastic tetraplegia, and intermittent convulsions caused by argininemia (<a href="/entry/207800">207800</a>), <a href="#8" class="mim-tip-reference" title="Haraguchi, Y., Aparicio, J. M., Takiguchi, M., Akaboshi, I., Yoshino, M., Mori, M., Matsuda, I. <strong>Molecular basis of argininemia: identification of two discrete frame-shift deletions in the liver-type arginase gene.</strong> J. Clin. Invest. 86: 347-350, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365823</a>] [<a href="https://doi.org/10.1172/JCI114707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365823">Haraguchi et al. (1990)</a> found compound heterozygosity for 2 frameshift deletions in the ARG1 gene. One of these was a 4-base deletion at nucleotides 262-265 or 263-266 in exon 3, creating a stop codon at residue 132, and the other was a 1-base deletion at nucleotide 77 or 78 in exon 2 (<a href="#0002">608313.0002</a>), creating a stop codon at residue 31. The 1-base deletion was inherited from the mother, whereas the 4-base deletion came from the father. The parents were not consanguineous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365823" 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 ARGININEMIA</strong>
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ARG1, 1-BP DEL, NT72
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2114519176 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2114519176;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2114519176" 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=rs2114519176" 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=RCV000002488" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002488" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002488</a>
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<p>For discussion of the 1-bp deletion in the ARG1 gene that was found in compound heterozygous state in a patient with microcephaly, spastic tetraplegia, and intermittent convulsions caused by argininemia (<a href="/entry/207800">207800</a>) by <a href="#8" class="mim-tip-reference" title="Haraguchi, Y., Aparicio, J. M., Takiguchi, M., Akaboshi, I., Yoshino, M., Mori, M., Matsuda, I. <strong>Molecular basis of argininemia: identification of two discrete frame-shift deletions in the liver-type arginase gene.</strong> J. Clin. Invest. 86: 347-350, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365823</a>] [<a href="https://doi.org/10.1172/JCI114707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365823">Haraguchi et al. (1990)</a>, see <a href="#0001">608313.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365823" 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 ARGININEMIA</strong>
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ARG1, ARG291TER
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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> rs104893940 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893940;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/rs104893940?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=rs104893940" 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=rs104893940" 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=RCV000002489" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002489" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002489</a>
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<p>In a patient with arginase deficiency (<a href="/entry/207800">207800</a>), <a href="#7" class="mim-tip-reference" title="Grody, W. W., Klein, D., Dodson, A. E., Kern, R. M., Wissmann, P. B., Goodman, B. K., Bassand, P., Marescau, B., Kang, S.-S., Leonard, J. V., Cederbaum, S. D. <strong>Molecular genetic study of human arginase deficiency.</strong> Am. J. Hum. Genet. 50: 1281-1290, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598908</a>]" pmid="1598908">Grody et al. (1992)</a> identified a homozygous mutation in the ARG1 gene, resulting in an arg291-to-ter (R291X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598908" 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="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 ARGININEMIA</strong>
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</h4>
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<span class="mim-text-font">
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ARG1, THR290SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104893942 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893942;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104893942" 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=rs104893942" 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=RCV000002490" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002490" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002490</a>
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</span>
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<span class="mim-text-font">
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<p>In a patient with arginase deficiency (<a href="/entry/207800">207800</a>), <a href="#7" class="mim-tip-reference" title="Grody, W. W., Klein, D., Dodson, A. E., Kern, R. M., Wissmann, P. B., Goodman, B. K., Bassand, P., Marescau, B., Kang, S.-S., Leonard, J. V., Cederbaum, S. D. <strong>Molecular genetic study of human arginase deficiency.</strong> Am. J. Hum. Genet. 50: 1281-1290, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598908</a>]" pmid="1598908">Grody et al. (1992)</a> identified a homozygous mutation in the ARG1 gene, resulting in a thr290-to-ser (T290S) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598908" 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="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 ARGININEMIA</strong>
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</h4>
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ARG1, TRP122TER
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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> rs104893947 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893947;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/rs104893947?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=rs104893947" 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=rs104893947" 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=RCV000002491 OR RCV000480650" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002491, RCV000480650" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002491...</a>
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</span>
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<span class="mim-text-font">
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<p>In a Japanese patient with argininemia (<a href="/entry/207800">207800</a>) manifested by psychomotor retardation and spastic tetraplegia, <a href="#22" class="mim-tip-reference" title="Uchino, T., Haraguchi, Y., Aparicio, J. M., Mizutani, N., Higashikawa, M., Naitoh, H., Mori, M., Matsuda, I. <strong>Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.</strong> Am. J. Hum. Genet. 51: 1406-1412, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1463019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1463019</a>]" pmid="1463019">Uchino et al. (1992)</a> identified compound heterozygous mutations in the ARG1 gene: a 365G-A transition resulting in a trp122-to-ter (W122X) substitution, and a gly235-to-arg (G235R; <a href="#0006">608313.0006</a>) substitution. The patient inherited the nonsense mutation from his mother and the missense mutation from his father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1463019" 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="0006" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0006 ARGININEMIA</strong>
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ARG1, GLY235ARG
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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> rs104893948 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893948;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/rs104893948?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=rs104893948" 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=rs104893948" 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=RCV000002492" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002492" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002492</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>In 2 Japanese patients with argininemia (<a href="/entry/207800">207800</a>), <a href="#22" class="mim-tip-reference" title="Uchino, T., Haraguchi, Y., Aparicio, J. M., Mizutani, N., Higashikawa, M., Naitoh, H., Mori, M., Matsuda, I. <strong>Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.</strong> Am. J. Hum. Genet. 51: 1406-1412, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1463019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1463019</a>]" pmid="1463019">Uchino et al. (1992)</a> identified a 703G-C transversion in exon 7 of the ARG1 gene, resulting in a gly235-to-arg (G235R) substitution. One patient was homozygous for the mutation and the other patient compound heterozygous for G235R and the trp122-to-ter mutation (W122X; <a href="#0005">608313.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1463019" 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="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 ARGININEMIA</strong>
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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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ARG1, 1-BP DEL, 842C
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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">rs1562361837 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562361837;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1562361837" 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=rs1562361837" 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=RCV000002493" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002493" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002493</a>
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<p>In a Japanese patient with argininemia (<a href="/entry/207800">207800</a>), <a href="#22" class="mim-tip-reference" title="Uchino, T., Haraguchi, Y., Aparicio, J. M., Mizutani, N., Higashikawa, M., Naitoh, H., Mori, M., Matsuda, I. <strong>Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.</strong> Am. J. Hum. Genet. 51: 1406-1412, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1463019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1463019</a>]" pmid="1463019">Uchino et al. (1992)</a> identified a homozygous 1-bp deletion (842delC) in exon 8 of the ARG1 gene, resulting in a stop codon at residue 289. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1463019" 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="0008" class="mim-anchor"></a>
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<strong>.0008 ARGININEMIA</strong>
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ARG1, ILE11THR
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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> rs28941474 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28941474;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/rs28941474?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=rs28941474" 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=rs28941474" 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=RCV000002494" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002494" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002494</a>
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<p>In 3 related Puerto Rican patients with arginase deficiency (<a href="/entry/207800">207800</a>), followed from 1 to 21 years of age by <a href="#15" class="mim-tip-reference" title="Snyderman, S. E., Sansaricq, C., Norton, P. M., Goldstein, F. <strong>Argininemia treated from birth.</strong> J. Pediat. 95: 61-63, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/480013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">480013</a>] [<a href="https://doi.org/10.1016/s0022-3476(79)80082-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="480013">Snyderman et al. (1979)</a>, <a href="#23" class="mim-tip-reference" title="Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M. E., Jakobs, C., Matsuda, I. <strong>Molecular basis of phenotypic variation in patients with argininemia.</strong> Hum. Genet. 96: 255-260, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7649538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7649538</a>] [<a href="https://doi.org/10.1007/BF00210403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7649538">Uchino et al. (1995)</a> identified a 32T-C change in exon 1 of the ARG1 gene, resulting in an ile11-to-thr (I11T) substitution. The patients were compound heterozygous for the I11T mutation and a G235R mutation (<a href="#0006">608313.0006</a>). Functional expression studies in E. coli showed that the I11T mutant protein activity was 12% of normal arginase. The mutant arginase proteins previously analyzed, such as G235R and W122X (<a href="#0005">608313.0005</a>), had less than 1% of the control activity in vitro. Response to dietary therapy was good. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7649538+480013" 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="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 ARGININEMIA</strong>
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ARG1, GLY138VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104893943 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893943;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104893943" 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=rs104893943" 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=RCV000002495" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002495" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002495</a>
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<span class="mim-text-font">
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<p>In a French Canadian patient with argininemia (<a href="/entry/207800">207800</a>), <a href="#23" class="mim-tip-reference" title="Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M. E., Jakobs, C., Matsuda, I. <strong>Molecular basis of phenotypic variation in patients with argininemia.</strong> Hum. Genet. 96: 255-260, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7649538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7649538</a>] [<a href="https://doi.org/10.1007/BF00210403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7649538">Uchino et al. (1995)</a> identified compound heterozygous mutations in the ARG1 gene: a 413G-T transversion in exon 4, resulting in a gly138-to-val (G138V) substitution, and a donor splice site mutation (<a href="#0010">608313.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7649538" 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="0010" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0010 ARGININEMIA</strong>
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</span>
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</h4>
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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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ARG1, IVS1DS, G-A, +1
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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> rs587776539 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776539;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/rs587776539?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=rs587776539" 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=rs587776539" 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=RCV000002496" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002496" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002496</a>
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</span>
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<span class="mim-text-font">
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<p>This splice site mutation, involving nucleotide 57 of the ARG1 gene, was found by <a href="#23" class="mim-tip-reference" title="Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M. E., Jakobs, C., Matsuda, I. <strong>Molecular basis of phenotypic variation in patients with argininemia.</strong> Hum. Genet. 96: 255-260, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7649538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7649538</a>] [<a href="https://doi.org/10.1007/BF00210403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7649538">Uchino et al. (1995)</a> in homozygous state in a French Canadian argininemia (<a href="/entry/207800">207800</a>) patient with consanguineous parents. The patient responded well to dietary therapy. The substitution violated the GT/AG rule for splice site junctions (<a href="#13" class="mim-tip-reference" title="Shapiro, M. B., Senapathy, P. <strong>RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.</strong> Nucleic Acids Res. 15: 7155-7174, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3658675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3658675</a>] [<a href="https://doi.org/10.1093/nar/15.17.7155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3658675">Shapiro and Senapathy, 1987</a>). In another French Canadian patient who showed slow improvement and did not have consanguineous parents, this mutation was found in compound heterozygous state with the G138V mutation (<a href="#0009">608313.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7649538+3658675" 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>
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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 ARGININEMIA</strong>
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</h4>
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</div>
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ARG1, IVS4AS, 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">rs1554251045 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554251045;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1554251045" 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=rs1554251045" 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=RCV000673724" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000673724" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000673724</a>
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</span>
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<span class="mim-text-font">
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<p>In a Pakistani patient, born of consanguineous parents, with argininemia (<a href="/entry/207800">207800</a>), <a href="#23" class="mim-tip-reference" title="Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M. E., Jakobs, C., Matsuda, I. <strong>Molecular basis of phenotypic variation in patients with argininemia.</strong> Hum. Genet. 96: 255-260, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7649538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7649538</a>] [<a href="https://doi.org/10.1007/BF00210403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7649538">Uchino et al. (1995)</a> identified an A-to-G substitution at the acceptor site of intron 4 of the ARG1 gene. The patient improved with dietary therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7649538" 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="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 ARGININEMIA</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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ARG1, ARG21TER
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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> rs104893944 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893944;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/rs104893944?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=rs104893944" 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=rs104893944" 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=RCV000002498 OR RCV000421601 OR RCV002512678" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002498, RCV000421601, RCV002512678" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002498...</a>
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<p>In 4 unrelated Portuguese patients with argininemia (<a href="/entry/207800">207800</a>), <a href="#1" class="mim-tip-reference" title="Cardoso, M. L., Martins, E., Vasconcelos, R., Vilarinho, L., Rocha, J. <strong>Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.</strong> Hum. Mutat. 14: 355-356, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10502833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10502833</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10502833">Cardoso et al. (1999)</a> identified a C-to-T transition in exon 2 of the ARG1 gene, resulting in an arg21-to-ter (R21X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10502833" 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 href="#Grody1989" class="mim-tip-reference" title="Grody, W. W., Dodson, A., Klein, D., Kern, R. M., Bassand, P., Cederbaum, S. D. <strong>Molecular genetic study of human arginase deficiency. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A191 only, 1989.">Grody et al. (1989)</a>
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Cardoso, M. L., Martins, E., Vasconcelos, R., Vilarinho, L., Rocha, J.
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<strong>Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.</strong>
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Hum. Mutat. 14: 355-356, 1999.
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I" target="_blank">Full Text</a>]
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Colegio, O. R., Chu, N.-Q., Szabo, A. L., Chu, T., Rhebergen, A. M., Jairam, V., Cyrus, N., Brokowski, C. E., Eisenbarth, S. C., Phillips, G. M., Cline, G. W., Phillips, A. J., Medzhitov, R.
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[<a href="https://doi.org/10.1038/nature13490" target="_blank">Full Text</a>]
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Deignan, J. L., Livesay, J. C., Yoo, P. K., Goodman, S. I., O'Brien, W. E., Iyer, R. K., Cederbaum, S. D., Grody, W. W.
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[<a href="https://doi.org/10.1016/j.ymgme.2006.04.007" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17997338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17997338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17997338" 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/j.ymgme.2007.09.016" target="_blank">Full Text</a>]
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Diez-Fernandez, C., Rufenacht, V., Gemperle, C., Fingerhut, R., Haberle, J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29726057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29726057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29726057" 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.23545" target="_blank">Full Text</a>]
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Grody, W. W., Dodson, A., Klein, D., Kern, R. M., Bassand, P., Cederbaum, S. D.
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<strong>Molecular genetic study of human arginase deficiency. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A191 only, 1989.
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Grody, W. W., Klein, D., Dodson, A. E., Kern, R. M., Wissmann, P. B., Goodman, B. K., Bassand, P., Marescau, B., Kang, S.-S., Leonard, J. V., Cederbaum, S. D.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3658675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3658675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3658675" 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/15.17.7155" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Shih1972" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Shih, V. E., Jones, C. T., Levy, H. L., Madigan, P. M.
|
|
<strong>Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver.</strong>
|
|
Pediat. Res. 6: 548-551, 1972.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4625814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4625814</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4625814" 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/10.1203/00006450-197206000-00003" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Snyderman1979" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Snyderman, S. E., Sansaricq, C., Norton, P. M., Goldstein, F.
|
|
<strong>Argininemia treated from birth.</strong>
|
|
J. Pediat. 95: 61-63, 1979.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/480013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">480013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=480013" 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/s0022-3476(79)80082-7" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Sparkes1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sparkes, R. S., Dizikes, G. J., Klisak, I., Grody, W. W., Mohandas, T., Heinzmann, C., Zollman, S., Lusis, A. J., Cederbaum, S. D.
|
|
<strong>The gene for human liver arginase (ARG1) is assigned to chromosome band 6q23.</strong>
|
|
Am. J. Hum. Genet. 39: 186-193, 1986.
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3752085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3752085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3752085" 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>
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<a id="17" class="mim-anchor"></a>
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<a id="Spector1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spector, E. B., Rice, S. C. H., Cederbaum, S. D.
|
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<strong>Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients.</strong>
|
|
Pediat. Res. 17: 941-944, 1983.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6419196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6419196</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6419196" 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/10.1203/00006450-198312000-00003" target="_blank">Full Text</a>]
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Spector1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spector, E. B., Rice, S. C. H., Kern, R. M., Hendrickson, R., Cederbaum, S. D.
|
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<strong>Comparison of arginase activity in red blood cells of lower mammals, primates, and man: evolution to high activity in primates.</strong>
|
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Am. J. Hum. Genet. 37: 1138-1145, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3936352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3936352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3936352" 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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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Stoermer2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stoermer, K. A., Burrack, A., Oko, L., Montgomery, S. A., Borst, L. B., Gill, R. G., Morrison, T. E.
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<strong>Genetic ablation of arginase 1 in macrophages and neutrophils enhances clearance of an arthritogenic alphavirus.</strong>
|
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J. Immun. 189: 4047-4059, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22972923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22972923</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22972923[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=22972923" 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/10.4049/jimmunol.1201240" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Takiguchi1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takiguchi, M., Haraguchi, Y., Mori, M.
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<strong>Human liver-type arginase gene: structure of the gene and analysis of the promoter region.</strong>
|
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Nucleic Acids Res. 16: 8789-8802, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174433</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3174433" 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/16.18.8789" target="_blank">Full Text</a>]
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Terasaki1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Terasaki, K., Spector, E. B., Hendrickson, R., Cederbaum, S. D.
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<strong>Properties of arginase from liver of Macaca fascicularis: comparison of normals with red blood cell arginase deficient monkeys.</strong>
|
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Biochem. Genet. 18: 829-841, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7225081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7225081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7225081" 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/BF00500116" target="_blank">Full Text</a>]
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Uchino1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Uchino, T., Haraguchi, Y., Aparicio, J. M., Mizutani, N., Higashikawa, M., Naitoh, H., Mori, M., Matsuda, I.
|
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<strong>Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.</strong>
|
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Am. J. Hum. Genet. 51: 1406-1412, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1463019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1463019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1463019" 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>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Uchino1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M. E., Jakobs, C., Matsuda, I.
|
|
<strong>Molecular basis of phenotypic variation in patients with argininemia.</strong>
|
|
Hum. Genet. 96: 255-260, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7649538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7649538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7649538" 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/BF00210403" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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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="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Ada Hamosh - updated : 05/21/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 03/08/2019<br>Sonja A. Rasmussen - updated : 01/11/2019<br>Ada Hamosh - updated : 10/10/2014<br>Paul J. Converse - updated : 6/19/2013<br>Patricia A. Hartz - updated : 1/6/2009<br>Patricia A. Hartz - updated : 8/8/2005
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</span>
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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="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin : 12/3/2003
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</span>
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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="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/11/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
alopez : 07/01/2019<br>alopez : 05/21/2019<br>alopez : 03/08/2019<br>carol : 01/14/2019<br>carol : 01/11/2019<br>carol : 10/20/2016<br>carol : 07/24/2015<br>mcolton : 7/23/2015<br>alopez : 10/10/2014<br>alopez : 10/10/2014<br>carol : 2/19/2014<br>mgross : 6/19/2013<br>alopez : 7/16/2012<br>joanna : 12/8/2011<br>mgross : 1/7/2009<br>terry : 1/6/2009<br>mgross : 8/8/2005<br>carol : 12/4/2003<br>ckniffin : 12/3/2003
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</span>
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
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<strong>*</strong> 608313
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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ARGINASE 1; ARG1
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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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<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>
|
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<span class="mim-font">
|
|
ARGINASE, LIVER
|
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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>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: ARG1</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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<p>
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<span class="mim-text-font">
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|
|
<strong>SNOMEDCT:</strong> 23501004;
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|
|
<strong>ICD10CM:</strong> E72.21;
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</span>
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</p>
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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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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 6q23.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 6:131,573,226-131,584,329 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
|
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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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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
|
6q23.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Argininemia
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</span>
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</td>
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<td>
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<span class="mim-font">
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207800
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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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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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Arginase (EC 3.5.3.1) catalyzes the last step of the urea cycle. It is present in 2 forms, specified by separate gene loci, ARG1 and ARG2 (107830). The isoform encoded by ARG1, referred to as the liver, or A-I, isoform, contributes 98% of the arginase activity in liver but is also present in red cells. ARG2 encodes the mitochondrial, or A-II, isoform, which predominates in kidney.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Using a rat liver ARG1 cDNA clone to probe a human liver cDNA library, Haraguchi et al. (1987) isolated and characterized a cDNA corresponding to the ARG1 gene. The deduced 322-amino acid polypeptide has a molecular mass of 34.7 kD. A 1.6-kb mRNA was detected in liver. The amino acid sequence was 87% and 41% identical to those of the rat liver and yeast enzymes, respectively. </p>
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</span>
|
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<div>
|
|
<br />
|
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</div>
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|
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
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|
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<span class="mim-text-font">
|
|
<p>By immunologic studies, Spector et al. (1983) found that 90% of the arginase in red blood cell and liver was precipitated by the antibody, whereas only 50% of the arginase in kidney, brain, and the gastrointestinal tract reacted with it. Patients with arginase deficiency were found to have normal amounts of enzymatically inactive arginase in their red blood cells, whereas enzymatically active arginase was detected in kidney biopsies. The findings indicated 2 types of arginase protein defined by 2 genetic loci. </p><p>Colegio et al. (2014) showed that lactic acid produced by tumor cells, as a byproduct of aerobic or anaerobic glycolysis, has a critical function in signaling, through inducing the expression of vascular endothelial growth factor (VEGF; 192240) and the M2-like polarization of tumor-associated macrophages. The authors also demonstrated that this effect of lactic acid is mediated by hypoxia-inducible factor 1-alpha (HIF1A; 603348). Finally, they showed that the lactate-induced expression of arginase-1 by macrophages has an important role in tumor growth. Colegio et al. (2014) concluded that their findings identified a mechanism of communication between macrophages and their client cells, including tumor cells. This communication likely evolved to promote homeostasis in normal tissues but can also be engaged in tumors to promote their growth. </p><p>Poillet-Perez et al. (2018) demonstrated that host-specific deletion of Atg7 (608760) impairs the growth of multiple allografted tumors, although not all tumor lines were sensitive to host autophagy status. Loss of autophagy in the host was associated with a reduction in circulating arginine, and the sensitive tumor cell lines were arginine auxotrophs owing to the lack of expression of the enzyme argininosuccinate synthase 1. Serum proteomic analysis identified the arginine-degrading enzyme Arg1 in the circulation of Atg7-deficient hosts, and in vivo arginine metabolic tracing demonstrated that serum arginine was degraded to ornithine. ARG1 is predominantly expressed in the liver and can be released from hepatocytes into the circulation. Liver-specific deletion of Atg7 produced circulating Arg1, and reduced both serum arginine and tumor growth. Deletion of Atg5 (604261) in the host similarly regulated circulating arginine and suppressed tumorigenesis, which demonstrated that this phenotype is specific to autophagy function rather than to deletion of Atg7. Dietary supplementation of Atg7-deficient hosts with arginine partially restored levels of circulating arginine and tumor growth. Poillet-Perez et al. (2018) concluded that defective autophagy in the host leads to the release of ARG1 from the liver and the degradation of circulating arginine, which is essential for tumor growth, identifying a metabolic vulnerability of cancer. </p><p>Li et al. (2019) reported that the tumor suppressor p53 (191170) regulates ammonia metabolism by repressing the urea cycle. Through transcriptional downregulation of CPS1 (608307), OTC (300461), and ARG1, p53 suppresses ureagenesis and elimination of ammonia in vitro and in vivo, leading to the inhibition of tumor growth. Conversely, downregulation of these genes reciprocally activates p53 by MDM2 (164785)-mediated mechanism(s). Furthermore, the accumulation of ammonia causes a significant decline in mRNA translation of the polyamine biosynthetic rate-limiting enzyme ODC (ODC1; 165640), thereby inhibiting the biosynthesis of polyamine and cell proliferation. Li et al. (2019) conclude that together, their findings linked p53 to ureagenesis and ammonia metabolism, and further revealed a role for ammonia in controlling polyamine biosynthesis and cell proliferation. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
|
</div>
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|
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|
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<span class="mim-text-font">
|
|
<p>Takiguchi et al. (1988) determined that the arginase gene contains 8 exons. </p>
|
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</span>
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<div>
|
|
<br />
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Sparkes et al. (1986) mapped the human liver arginase gene to chromosome 6q23 by a combination of somatic cell hybrid analysis and in situ hybridization. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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|
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese girl with argininemia (207800), Haraguchi et al. (1990) found compound heterozygosity for 2 frameshift deletions in the ARG1 gene (608313.0001-608313.0002). </p><p>In patients with arginase deficiency, Grody et al. (1992) identified 2 mutations in the ARG1 gene (608313.0003-608313.0004). They concluded that arginase deficiency is heterogeneous at the genotypic level, generally encompassing a variety of point mutations rather than substantial structural gene deletions. </p><p>Diez-Fernandez et al. (2018) summarized data on all published and 12 novel ARG1 mutations, totaling 66 mutations from 112 patients. Missense mutations were the most common (30), followed by deletions (15), splicing (10), nonsense (7), duplications (2), insertions (1), and a translation initiation codon mutation. Most of the mutations (48) were found in single families, with 15 in up to 4 families and only 3 mutations (T134I; G235R, 608313.0006; and R21X, 608313.0012) found in 5, 14, and 16 families, respectively. The 30 missense mutations were distributed unevenly throughout the 8 exons, clustering in exons 1, 4, and 7. No clear genotype-phenotype correlation was observed. Even patients carrying homozygous 'devastating' mutations (e.g., nonsense and splicing) could develop later onset of the disease. Most ARG1 mutations led to late-onset disease; 6 mutations were associated with neonatal-onset disease (I8K, G106R, c.466-2A-G, c.77delA, c.262_265delAAGA (608313.0001), and c.647_648ins32). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Shih et al. (1972) found high blood arginine levels and low red cell arginase in Macaca fascicularis monkeys in the New England Regional Primate Center, indicating arginase deficiency. Terasaki et al. (1980) showed that the liver enzyme was identical in RBC-normal and RBC-deficient animals. Spector et al. (1985) confirmed the occurrence of red cell arginase deficiency in M. fascicularis trapped in the wild in various areas and showed that most lower animals (mouse, rat, rabbit, cat, dog) have a low level of red cell arginase. Baboon has a very low level, and orangutan and gorilla have relatively low levels. However, the level is high in the chimpanzee and in the cow. Spector et al. (1985) suggested that upregulation of red cell arginase in higher primates has evolved under positive selection pressure after having been extinguished in lower animals. The mechanism of the regulation may be in the gene itself or its immediate vicinity because it operates in cis and not in trans. </p><p>Iyer et al. (2002) found that Arg1-knockout mice were born in a nonmendelian ratio, but the genotypes were in Hardy-Weinberg equilibrium, suggesting sperm lacking Arg1 may be less fit to participate in fertilization. Knockout mice exhibited severe hyperammonemia and died between postnatal days 10 and 14. Livers of Arg1-deficient animals showed hepatocyte abnormalities, including cell swelling and inclusion. Plasma amino acid analysis showed that the mean arginine level in Arg1-knockout mice was 4-fold and 3-fold greater than in wildtype and heterozygous mice, respectively. Mean proline and ornithine levels were reduced, as were plasma concentrations of the branched-chain amino acids valine, isoleucine, and leucine. Glutamic acid, citrulline, and histidine levels were about 1.5-fold higher than in phenotypically normal animals. Iyer et al. (2002) concluded that Arg1-knockout mice duplicate several pathobiologic aspects of human argininemia. </p><p>Deignan et al. (2006) created mice with individual and combined knockout of Arg1 and Arg2. Arg1 knockout mice died by 14 days of age from hyperammonemia, while Arg2 knockout mice had no obvious phenotype. Arg1/Arg2 double-knockout mice exhibited the phenotype of the Arg1 knockout mice, with the additional absence of Arg2 not exacerbating the phenotype. Plasma amino acid measurements in the double-knockout mice showed arginine levels increased roughly 100-fold and ornithine decreased roughly 10-fold compared with wildtype. Arginine and ornithine levels were also altered in liver, kidney, brain, and small intestine in the double-knockout mice. </p><p>Deignan et al. (2008) stated that several guanidino compounds, which are direct or indirect metabolites of arginine, are elevated in the blood of uremic patients and in the plasma and cerebrospinal fluid of hyperargininemic patients. They assayed several guanidino compounds in arginase single- and double-knockout mice and found that alpha-keto-delta-guanidinovaleric acid, alpha-N-acetylarginine, and argininic acid were increased in brain tissue from Arg1 knockout and Arg1/Arg2 double-knockout animals. Several guanidino compounds were also elevated in plasma, liver, and kidney. Deignan et al. (2008) concluded that guanidino compounds may be the neuropathogenic agents responsible for complications in arginase deficiency. </p><p>Chikungunya virus (CHIKV) and Ross River virus (RRV) are arthritogenic alphaviruses. Stoermer et al. (2012) found that musculoskeletal inflammatory lesions in CHIKV- or RRV-infected mice, as well as macrophages present in those lesions, expressed high levels of Arg1 and Ym1 (Chi3l3). Arg1 and Ym1 are markers of alternatively activated immunoregulatory (M2) macrophages that have high phagocytic capacity and dampen inflammation. The macrophages of infected mice lacked Fizz1 (see RETNLB; 605645), which is also a marker of murine M2 macrophages. Mice lacking expression of Arg1 specifically in macrophages and neutrophils had high expression of Ym1, low expression of Fizz1, dramatically reduced viral loads, and decreased inflammatory pathology in musculoskeletal tissues at late times after RRV infection. Stoermer et al. (2012) concluded that CHIKV and RRV infection induce a unique myeloid cell activation program in inflamed musculoskeletal tissues that inhibits viral clearance and disease resolution in an ARG1-dependent manner. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>12 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ARGININEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ARG1, 4-BP DEL, 262AAGA
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|
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|
|
|
<br />
|
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|
|
SNP: rs1773790103,
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|
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|
|
|
|
|
ClinVar: RCV000002487
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|
|
|
|
|
</span>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese girl with severe mental retardation, microcephaly, spastic tetraplegia, and intermittent convulsions caused by argininemia (207800), Haraguchi et al. (1990) found compound heterozygosity for 2 frameshift deletions in the ARG1 gene. One of these was a 4-base deletion at nucleotides 262-265 or 263-266 in exon 3, creating a stop codon at residue 132, and the other was a 1-base deletion at nucleotide 77 or 78 in exon 2 (608313.0002), creating a stop codon at residue 31. The 1-base deletion was inherited from the mother, whereas the 4-base deletion came from the father. The parents were not consanguineous. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ARGININEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ARG1, 1-BP DEL, NT72
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|
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|
|
|
<br />
|
|
|
|
SNP: rs2114519176,
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|
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|
|
|
|
ClinVar: RCV000002488
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion in the ARG1 gene that was found in compound heterozygous state in a patient with microcephaly, spastic tetraplegia, and intermittent convulsions caused by argininemia (207800) by Haraguchi et al. (1990), see 608313.0001. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ARGININEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ARG1, ARG291TER
|
|
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|
|
<br />
|
|
|
|
SNP: rs104893940,
|
|
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|
|
|
gnomAD: rs104893940,
|
|
|
|
|
|
ClinVar: RCV000002489
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with arginase deficiency (207800), Grody et al. (1992) identified a homozygous mutation in the ARG1 gene, resulting in an arg291-to-ter (R291X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ARGININEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ARG1, THR290SER
|
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<br />
|
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|
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SNP: rs104893942,
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|
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ClinVar: RCV000002490
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|
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</span>
|
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</div>
|
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with arginase deficiency (207800), Grody et al. (1992) identified a homozygous mutation in the ARG1 gene, resulting in a thr290-to-ser (T290S) substitution. </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>
|
|
|
|
<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 ARGININEMIA</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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|
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ARG1, TRP122TER
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<br />
|
|
|
|
SNP: rs104893947,
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|
|
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gnomAD: rs104893947,
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|
|
|
|
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ClinVar: RCV000002491, RCV000480650
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|
|
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</span>
|
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</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with argininemia (207800) manifested by psychomotor retardation and spastic tetraplegia, Uchino et al. (1992) identified compound heterozygous mutations in the ARG1 gene: a 365G-A transition resulting in a trp122-to-ter (W122X) substitution, and a gly235-to-arg (G235R; 608313.0006) substitution. The patient inherited the nonsense mutation from his mother and the missense mutation from his father. </p>
|
|
</span>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ARGININEMIA</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ARG1, GLY235ARG
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs104893948,
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|
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|
|
|
gnomAD: rs104893948,
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|
|
|
|
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ClinVar: RCV000002492
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|
|
|
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</span>
|
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</div>
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|
|
|
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 Japanese patients with argininemia (207800), Uchino et al. (1992) identified a 703G-C transversion in exon 7 of the ARG1 gene, resulting in a gly235-to-arg (G235R) substitution. One patient was homozygous for the mutation and the other patient compound heterozygous for G235R and the trp122-to-ter mutation (W122X; 608313.0005). </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>
|
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<span class="mim-font">
|
|
<strong>.0007 ARGININEMIA</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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ARG1, 1-BP DEL, 842C
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<br />
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SNP: rs1562361837,
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ClinVar: RCV000002493
|
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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 Japanese patient with argininemia (207800), Uchino et al. (1992) identified a homozygous 1-bp deletion (842delC) in exon 8 of the ARG1 gene, resulting in a stop codon at residue 289. </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>.0008 ARGININEMIA</strong>
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</span>
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|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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ARG1, ILE11THR
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<br />
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|
|
SNP: rs28941474,
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|
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gnomAD: rs28941474,
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|
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ClinVar: RCV000002494
|
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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 3 related Puerto Rican patients with arginase deficiency (207800), followed from 1 to 21 years of age by Snyderman et al. (1979), Uchino et al. (1995) identified a 32T-C change in exon 1 of the ARG1 gene, resulting in an ile11-to-thr (I11T) substitution. The patients were compound heterozygous for the I11T mutation and a G235R mutation (608313.0006). Functional expression studies in E. coli showed that the I11T mutant protein activity was 12% of normal arginase. The mutant arginase proteins previously analyzed, such as G235R and W122X (608313.0005), had less than 1% of the control activity in vitro. Response to dietary therapy was good. </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>.0009 ARGININEMIA</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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ARG1, GLY138VAL
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<br />
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SNP: rs104893943,
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ClinVar: RCV000002495
|
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</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a French Canadian patient with argininemia (207800), Uchino et al. (1995) identified compound heterozygous mutations in the ARG1 gene: a 413G-T transversion in exon 4, resulting in a gly138-to-val (G138V) substitution, and a donor splice site mutation (608313.0010). </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>.0010 ARGININEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
ARG1, IVS1DS, G-A, +1
|
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|
|
<br />
|
|
|
|
SNP: rs587776539,
|
|
|
|
|
|
gnomAD: rs587776539,
|
|
|
|
|
|
ClinVar: RCV000002496
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>This splice site mutation, involving nucleotide 57 of the ARG1 gene, was found by Uchino et al. (1995) in homozygous state in a French Canadian argininemia (207800) patient with consanguineous parents. The patient responded well to dietary therapy. The substitution violated the GT/AG rule for splice site junctions (Shapiro and Senapathy, 1987). In another French Canadian patient who showed slow improvement and did not have consanguineous parents, this mutation was found in compound heterozygous state with the G138V mutation (608313.0009). </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>.0011 ARGININEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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ARG1, IVS4AS, A-G, -2
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<br />
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|
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SNP: rs1554251045,
|
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|
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ClinVar: RCV000673724
|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Pakistani patient, born of consanguineous parents, with argininemia (207800), Uchino et al. (1995) identified an A-to-G substitution at the acceptor site of intron 4 of the ARG1 gene. The patient improved with dietary therapy. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
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</div>
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<div>
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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 ARGININEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ARG1, ARG21TER
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|
|
<br />
|
|
|
|
SNP: rs104893944,
|
|
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|
|
|
gnomAD: rs104893944,
|
|
|
|
|
|
ClinVar: RCV000002498, RCV000421601, RCV002512678
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated Portuguese patients with argininemia (207800), Cardoso et al. (1999) identified a C-to-T transition in exon 2 of the ARG1 gene, resulting in an arg21-to-ter (R21X) substitution. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</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">
|
|
Grody et al. (1989)
|
|
</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>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cardoso, M. L., Martins, E., Vasconcelos, R., Vilarinho, L., Rocha, J.
|
|
<strong>Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.</strong>
|
|
Hum. Mutat. 14: 355-356, 1999.
|
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|
|
[PubMed: 10502833]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Colegio, O. R., Chu, N.-Q., Szabo, A. L., Chu, T., Rhebergen, A. M., Jairam, V., Cyrus, N., Brokowski, C. E., Eisenbarth, S. C., Phillips, G. M., Cline, G. W., Phillips, A. J., Medzhitov, R.
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<strong>Functional polarization of tumour-associated macrophages by tumour-derived lactic acid.</strong>
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|
Nature 513: 559-563, 2014.
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[PubMed: 25043024]
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[Full Text: https://doi.org/10.1038/nature13490]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Deignan, J. L., Livesay, J. C., Yoo, P. K., Goodman, S. I., O'Brien, W. E., Iyer, R. K., Cederbaum, S. D., Grody, W. W.
|
|
<strong>Ornithine deficiency in the arginase double knockout mouse.</strong>
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|
Molec. Genet. Metab. 89: 87-96, 2006.
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[PubMed: 16753325]
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[Full Text: https://doi.org/10.1016/j.ymgme.2006.04.007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Deignan, J. L., Marescau, B., Livesay, J. C., Iyer, R. K., De Deyn, P. P., Cederbaum, S. D., Grody, W. W.
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|
<strong>Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.</strong>
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Molec. Genet. Metab. 93: 172-178, 2008.
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[PubMed: 17997338]
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[Full Text: https://doi.org/10.1016/j.ymgme.2007.09.016]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Diez-Fernandez, C., Rufenacht, V., Gemperle, C., Fingerhut, R., Haberle, J.
|
|
<strong>Mutations and common variants in the human arginase 1 (ARG1) gene: impact on patients diagnostics, and protein structure considerations.</strong>
|
|
Hum. Mutat. 39: 1029-1050, 2018.
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[PubMed: 29726057]
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[Full Text: https://doi.org/10.1002/humu.23545]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Grody, W. W., Dodson, A., Klein, D., Kern, R. M., Bassand, P., Cederbaum, S. D.
|
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<strong>Molecular genetic study of human arginase deficiency. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A191 only, 1989.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Grody, W. W., Klein, D., Dodson, A. E., Kern, R. M., Wissmann, P. B., Goodman, B. K., Bassand, P., Marescau, B., Kang, S.-S., Leonard, J. V., Cederbaum, S. D.
|
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<strong>Molecular genetic study of human arginase deficiency.</strong>
|
|
Am. J. Hum. Genet. 50: 1281-1290, 1992.
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[PubMed: 1598908]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Haraguchi, Y., Aparicio, J. M., Takiguchi, M., Akaboshi, I., Yoshino, M., Mori, M., Matsuda, I.
|
|
<strong>Molecular basis of argininemia: identification of two discrete frame-shift deletions in the liver-type arginase gene.</strong>
|
|
J. Clin. Invest. 86: 347-350, 1990.
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[PubMed: 2365823]
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[Full Text: https://doi.org/10.1172/JCI114707]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Haraguchi, Y., Takiguchi, M., Amaya, Y., Kawamoto, S., Matsuda, I., Mori, M.
|
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<strong>Molecular cloning and nucleotide sequence of cDNA for human liver arginase.</strong>
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Proc. Nat. Acad. Sci. 84: 412-415, 1987.
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[PubMed: 3540966]
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[Full Text: https://doi.org/10.1073/pnas.84.2.412]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Iyer, R. K., Yoo, P. K., Kern, R. M., Rozengurt, N., Tsoa, R., O'Brien, W. E., Yu, H., Grody, W. W., Cederbaum, S. D.
|
|
<strong>Mouse model for human arginase deficiency.</strong>
|
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Molec. Cell. Biol. 22: 4491-4498, 2002.
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[PubMed: 12052859]
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[Full Text: https://doi.org/10.1128/MCB.22.13.4491-4498.2002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Li, L., Mao, Y., Zhao, L., Li, L., Wu, J., Zhao, M., Du, W., Yu, L., Jiang, P.
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<strong>p53 regulation of ammonia metabolism through urea cycle controls polyamine biosynthesis.</strong>
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Nature 567: 253-256, 2019. Note: Erratum: Nature 569: E10, 2019. Electronic Article.
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[PubMed: 30842655]
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[Full Text: https://doi.org/10.1038/s41586-019-0996-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Poillet-Perez, L., Xie, X., Zhan, L., Yang, Y., Sharp, D. W., Hu, Z. S., Su, X., Maganti, A., Jiang, C., Lu, W., Zheng, H., Bosenberg, M. W., Mehnert, J. M., Guo, J. Y., Lattime, E., Rabinowitz, J. D., White, E.
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<strong>Autophagy maintains tumour growth through circulating arginine.</strong>
|
|
Nature 563: 569-573, 2018. Note: Erratum: Nature 565: E3, 2019. Electronic Article.
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[PubMed: 30429607]
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[Full Text: https://doi.org/10.1038/s41586-018-0697-7]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Shapiro, M. B., Senapathy, P.
|
|
<strong>RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.</strong>
|
|
Nucleic Acids Res. 15: 7155-7174, 1987.
|
|
|
|
|
|
[PubMed: 3658675]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/15.17.7155]
|
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|
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|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Shih, V. E., Jones, C. T., Levy, H. L., Madigan, P. M.
|
|
<strong>Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver.</strong>
|
|
Pediat. Res. 6: 548-551, 1972.
|
|
|
|
|
|
[PubMed: 4625814]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-197206000-00003]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Snyderman, S. E., Sansaricq, C., Norton, P. M., Goldstein, F.
|
|
<strong>Argininemia treated from birth.</strong>
|
|
J. Pediat. 95: 61-63, 1979.
|
|
|
|
|
|
[PubMed: 480013]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(79)80082-7]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Dizikes, G. J., Klisak, I., Grody, W. W., Mohandas, T., Heinzmann, C., Zollman, S., Lusis, A. J., Cederbaum, S. D.
|
|
<strong>The gene for human liver arginase (ARG1) is assigned to chromosome band 6q23.</strong>
|
|
Am. J. Hum. Genet. 39: 186-193, 1986.
|
|
|
|
|
|
[PubMed: 3752085]
|
|
|
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|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Spector, E. B., Rice, S. C. H., Cederbaum, S. D.
|
|
<strong>Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients.</strong>
|
|
Pediat. Res. 17: 941-944, 1983.
|
|
|
|
|
|
[PubMed: 6419196]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-198312000-00003]
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</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Spector, E. B., Rice, S. C. H., Kern, R. M., Hendrickson, R., Cederbaum, S. D.
|
|
<strong>Comparison of arginase activity in red blood cells of lower mammals, primates, and man: evolution to high activity in primates.</strong>
|
|
Am. J. Hum. Genet. 37: 1138-1145, 1985.
|
|
|
|
|
|
[PubMed: 3936352]
|
|
|
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|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Stoermer, K. A., Burrack, A., Oko, L., Montgomery, S. A., Borst, L. B., Gill, R. G., Morrison, T. E.
|
|
<strong>Genetic ablation of arginase 1 in macrophages and neutrophils enhances clearance of an arthritogenic alphavirus.</strong>
|
|
J. Immun. 189: 4047-4059, 2012.
|
|
|
|
|
|
[PubMed: 22972923]
|
|
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[Full Text: https://doi.org/10.4049/jimmunol.1201240]
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Takiguchi, M., Haraguchi, Y., Mori, M.
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<strong>Human liver-type arginase gene: structure of the gene and analysis of the promoter region.</strong>
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Nucleic Acids Res. 16: 8789-8802, 1988.
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[PubMed: 3174433]
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[Full Text: https://doi.org/10.1093/nar/16.18.8789]
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Terasaki, K., Spector, E. B., Hendrickson, R., Cederbaum, S. D.
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<strong>Properties of arginase from liver of Macaca fascicularis: comparison of normals with red blood cell arginase deficient monkeys.</strong>
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Biochem. Genet. 18: 829-841, 1980.
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[PubMed: 7225081]
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[Full Text: https://doi.org/10.1007/BF00500116]
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Uchino, T., Haraguchi, Y., Aparicio, J. M., Mizutani, N., Higashikawa, M., Naitoh, H., Mori, M., Matsuda, I.
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<strong>Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.</strong>
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Am. J. Hum. Genet. 51: 1406-1412, 1992.
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[PubMed: 1463019]
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Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M. E., Jakobs, C., Matsuda, I.
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<strong>Molecular basis of phenotypic variation in patients with argininemia.</strong>
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Hum. Genet. 96: 255-260, 1995.
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[PubMed: 7649538]
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[Full Text: https://doi.org/10.1007/BF00210403]
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