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Entry
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- *603859 - SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13
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- OMIM
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<p>
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<span class="h4">*603859</span>
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<br />
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<strong>Table of Contents</strong>
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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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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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/603859">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000004864;t=ENST00000265631" 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=10165" 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=603859" 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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</span>
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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=ENSG00000004864;t=ENST00000265631" 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_001160210,NM_014251,NR_027662,XM_017011663,XM_047419712,XM_047419713,XM_047419714,XM_047419715" 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_014251" 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=603859" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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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=04837&isoform_id=04837_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/SLC25A13" 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/2337885,2393737,5052319,6523256,6815277,7657581,13124095,16306895,22002963,41472329,41473477,41473898,62897287,119597154,119597155,221040130,237649019,2217365158,2217365160,2217365162,2217365164,2217365166,2462611821,2462611823,2462611826,2462611828,2462611830,2462611832" 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/Q9UJS0" 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=10165" 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=ENSG00000004864;t=ENST00000265631" 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=SLC25A13" 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=SLC25A13" 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+10165" 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/SLC25A13" 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:10165" 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/10165" 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=chr7&hgg_gene=ENST00000265631.10&hgg_start=96120220&hgg_end=96322098&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>
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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="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:10983" 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:10983" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603859[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=603859[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/ENSG00000004864" 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=SLC25A13" 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=SLC25A13" 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=SLC25A13" 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/SLC25A13" 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=SLC25A13&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/PA35859" 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:10983" 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/FBgn0028646.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:1354721" 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/SLC25A13#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:1354721" 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/10165/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=10165" 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=WBGene00019326;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-080319-2" 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://reactome.org/content/query?q=SLC25A13&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> 716863007, 717155003<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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603859
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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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SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
CITRIN
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLC25A13" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC25A13</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/7/434?start=-3&limit=10&highlight=434">7q21.3</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:96120220-96322098&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'})">7:96,120,220-96,322,098</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=603471,605814" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/434?start=-3&limit=10&highlight=434">
|
|
7q21.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Citrullinemia, adult-onset type II
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/603471"> 603471 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
|
|
|
|
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|
|
|
</tr>
|
|
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|
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|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Citrullinemia, type II, neonatal-onset
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/605814"> 605814 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
|
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|
|
</tbody>
|
|
</table>
|
|
</div>
|
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</div>
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<div>
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<p>From information gathered from 18 individuals with citrullinemia type II (CTLN2; <a href="/entry/603471">603471</a>, <a href="/entry/605814">605814</a>) <a href="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> used positional cloning and cDNA library screening to identify a novel gene, SLC25A13, which was found to encode a 675-amino acid protein with a molecular mass of 74 kD. The protein, termed citrin, is bipartite in structure, containing a mitochondrial carrier motif and 4 EF-hand domains. Northern blot analysis detected ubiquitous expression of a 3.4-kb transcript, with highest expression in liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" 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>Based on the structure of the citrin protein, <a href="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> suggested that it is a calcium-dependent mitochondrial solute transporter with a role in urea cycle function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" 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="Roesch, K., Hynds, P. J., Varga, R., Tranebjaerg, L., Koehler, C. M. <strong>The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.</strong> Hum. Molec. Genet. 13: 2101-2111, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15254020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15254020</a>] [<a href="https://doi.org/10.1093/hmg/ddh217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15254020">Roesch et al. (2004)</a> determined that citrin and aralar (SLC25A12; <a href="/entry/603667">603667</a>), which are Ca(2+)-binding aspartate/glutamate carriers (AGC) of the mitochondrial inner membrane, are substrates for the TIMM8A (<a href="/entry/300356">300356</a>)/TIMM13 (<a href="/entry/607383">607383</a>) complex. The AGCs function in the aspartate-malate NADH shuttle that moves reducing equivalents from the cytosol to the mitochondrial matrix. <a href="#4" class="mim-tip-reference" title="Roesch, K., Hynds, P. J., Varga, R., Tranebjaerg, L., Koehler, C. M. <strong>The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.</strong> Hum. Molec. Genet. 13: 2101-2111, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15254020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15254020</a>] [<a href="https://doi.org/10.1093/hmg/ddh217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15254020">Roesch et al. (2004)</a> hypothesized that insufficient NADH shuttling, linked with changes in Ca(2+) concentration, in sensitive cells of the CNS might contribute to the pathologic process associated with Mohr-Tranebjaerg syndrome (MTS; <a href="/entry/304700">304700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15254020" 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="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> determined that SLC25A13 contains 18 exons and encompasses approximately 200 kb of DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" 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="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> studied 118 CTLN2 families and localized the CTLN2 locus to chromosome 7q21.3 by homozygosity mapping analysis of individuals from 18 consanguineous unions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" 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><strong><em>Adult-Onset Type II Citrullinemia</em></strong></p><p>
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In 18 adult patients with CTLN2 from consanguineous parents, <a href="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> identified 5 distinct mutations (<a href="#0001">603859.0001</a>-<a href="#0005">603859.0005</a>) in the SLC25A13 gene and confirmed their causative role in the disease. The 5 recessive mutations all predicted truncation of the protein or loss of the loop between transmembrane-spanning regions, making it unlikely that the mutant protein would be translocated into the mitochondrial membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" 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>The studies of adult-onset type II citrullinemia in Japanese were extended by <a href="#10" class="mim-tip-reference" title="Yasuda, T., Yamaguchi, N., Kobayashi, K., Nishi, I., Horinouchi, H., Jalil, M. A., Li, M. X., Ushikai, M., Iijima, M., Kondo, I., Saheki, T. <strong>Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.</strong> Hum. Genet. 107: 537-545, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11153906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11153906</a>] [<a href="https://doi.org/10.1007/s004390000430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11153906">Yasuda et al. (2000)</a>, who identified 2 novel mutations in the SLC25A13 gene. Diagnostic analysis for the 7 known mutations in 103 CTLN2 patients diagnosed by biochemical and enzymatic studies revealed that 102 patients had 1 or 2 of the 7 mutations and 93 patients were homozygotes or compound heterozygotes. Five of 22 patients from consanguineous unions were compound heterozygotes, suggesting a high frequency of the mutated genes. By Western blot analysis with antihuman citrin antibody, <a href="#10" class="mim-tip-reference" title="Yasuda, T., Yamaguchi, N., Kobayashi, K., Nishi, I., Horinouchi, H., Jalil, M. A., Li, M. X., Ushikai, M., Iijima, M., Kondo, I., Saheki, T. <strong>Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.</strong> Hum. Genet. 107: 537-545, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11153906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11153906</a>] [<a href="https://doi.org/10.1007/s004390000430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11153906">Yasuda et al. (2000)</a> detected no cross-reactive immune materials in the liver of CTLN2 patients with any of the 7 mutations and thus hypothesized that CTLN2 is caused by a complete deletion of citrin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11153906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Pakistani man living in Europe who had episodic confusion and developed fatal hyperammonemic encephalopathy, <a href="#1" class="mim-tip-reference" title="Fiermonte, G., Soon, D., Chaudhuri, A., Paradies, E., Lee, P. J., Krywawych, S., Palmieri, F., Lachmann, R. H. <strong>An adult with type 2 citrullinemia presenting in Europe. (Letter)</strong> New Eng. J. Med. 358: 1408-1409, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18367750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18367750</a>] [<a href="https://doi.org/10.1056/NEJMc0707353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18367750">Fiermonte et al. (2008)</a> identified homozygosity for a missense mutation in the SLC25A13 gene (R588Q; <a href="#0007">603859.0007</a>). The authors noted that type II citrullinemia has rarely been reported outside of East Asia but must be considered in adults presenting with hyperammonemic encephalopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18367750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Neonatal-Onset Type II Citrullinemia</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Ohura, T., Kobayashi, K., Tazawa, Y., Nishi, I., Abukawa, D., Sakamoto, O., Iinuma, K., Saheki, T. <strong>Neonatal presentation of adult-onset type II citrullinemia.</strong> Hum. Genet. 108: 87-90, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11281457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11281457</a>] [<a href="https://doi.org/10.1007/s004390000448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11281457">Ohura et al. (2001)</a> described children with neonatal onset of type II citrullinemia (<a href="/entry/605814">605814</a>) due to mutations in the SLC25A13 gene. One patient was a compound heterozygote for the 851del4 (<a href="#0001">603859.0001</a>) and IVS11+1G-A (<a href="#0002">603859.0002</a>) mutations; 2 sibs were homozygotes for the latter mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11281457" 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="#8" class="mim-tip-reference" title="Tazawa, Y., Kobayashi, K., Ohura, T., Abukawa, D., Nishinomiya, F., Hosoda, Y., Yamashita, M., Nagata, I., Kono, Y., Yasuda, T., Yamaguchi, N., Saheki, T. <strong>Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.</strong> J. Pediat. 138: 735-740, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343052</a>] [<a href="https://doi.org/10.1067/mpd.2001.113264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343052">Tazawa et al. (2001)</a> described 3 children with neonatal onset of type II citrullinemia who presented between 1 and 5 months of age with cholestatic jaundice and were found to have mutations in the SLC25A13 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343052" 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="#7" class="mim-tip-reference" title="Tamamori, A., Okano, Y., Ozaki, H., Fujimoto, A., Kajiwara, M., Fukuda, K., Kobayashi, K., Saheki, T., Tagami, Y., Yamano, T. <strong>Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.</strong> Europ. J. Pediat. 161: 609-613, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12424587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12424587</a>] [<a href="https://doi.org/10.1007/s00431-002-1045-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12424587">Tamamori et al. (2002)</a> reported 5 patients with neonatal intrahepatic cholestasis caused by citrin deficiency and confirmed by mutation analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12424587" 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="#6" class="mim-tip-reference" title="Sinasac, D. S., Moriyama, M., Jalil, M. A., Begum, L., Li, M. X., Iijima, M., Horiuchi, M., Robinson, B. H., Kobayashi, K., Saheki, T., Tsui, L.-C. <strong>Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.</strong> Molec. Cell. Biol. 24: 527-536, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14701727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14701727</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14701727[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.24.2.527-536.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14701727">Sinasac et al. (2004)</a> developed Slc25a13-null mice. Liver mitochondrial assays revealed markedly decreased activities in aspartate transport and the malate-aspartate shuttle. Liver perfusion demonstrated deficits in ureagenesis from ammonia, gluconeogenesis from lactate, and an increase in the lactate-to-pyruvate ratio within hepatocytes. Slc25a13-null mice up to 1 year of age failed to show CTLN2-like symptoms due to normal hepatic argininosuccinate synthetase (ASS; <a href="/entry/603470">603470</a>) activity. Serologic measures of glucose, amino acid, and ammonia metabolism also showed no significant changes. Nitrogen-loading treatments produced only minor changes in the hepatic ammonia and amino acid levels. <a href="#6" class="mim-tip-reference" title="Sinasac, D. S., Moriyama, M., Jalil, M. A., Begum, L., Li, M. X., Iijima, M., Horiuchi, M., Robinson, B. H., Kobayashi, K., Saheki, T., Tsui, L.-C. <strong>Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.</strong> Molec. Cell. Biol. 24: 527-536, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14701727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14701727</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14701727[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.24.2.527-536.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14701727">Sinasac et al. (2004)</a> hypothesized that Slc25a13 deficiency alone may be insufficient to produce a CTLN2-like phenotype in mice. Their observations were compatible, however, with the variable age of onset, incomplete penetrance, and strong ethnic bias seen in CTLN2 where additional environmental and/or genetic triggers may be involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14701727" 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>Slc25a13-knockout mice show reduced mitochondrial Asp transport, but have no apparent phenotype, likely due to increased hepatic activity of mitochondrial glycerol-3-phosphate dehydrogenase (GPD2; <a href="/entry/138430">138430</a>), which can transport NADH reducing equivalents into mitochondria. <a href="#5" class="mim-tip-reference" title="Saheki, T., Iijima, M., Li, M. X., Kobayashi, K., Horiuchi, M., Ushikai, M., Okumura, F., Meng, X. J., Inoue, I., Tajima, A., Moriyama, M., Eto, K., Kadowaki, T., Sinasac, D. S., Tsui, L.-C., Tsuji, M., Okano, A., Kobayashi, T. <strong>Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.</strong> J. Biol. Chem. 282: 25041-25052, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17591776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17591776</a>] [<a href="https://doi.org/10.1074/jbc.M702031200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17591776">Saheki et al. (2007)</a> found that mice with a combined disruption of the Slc25a13 and Gpd2 genes had poor growth and developed citrullinemia, hyperammonemia, hypoglycemia, and fatty liver, all features of human citrin deficiency. An altered cytosolic NADH/NAD(+) ratio was closely associated with hyperammonemia. The data indicated that the more severe phenotype present in the Slc25a13/Gpd2 double-knockout mice represents a more accurate model of human citrin deficiency than Slc25a13-knockout mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17591776" 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="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> found that 9 patients with adult-onset type II citrullinemia (<a href="/entry/603471">603471</a>) were homozygous for a 4-bp (GTAT) deletion from nucleotide 851 in exon 9, predicting a frameshift and introduction of a stop codon at position 286, leading to premature termination of the protein. Three other patients were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" 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="Ohura, T., Kobayashi, K., Tazawa, Y., Nishi, I., Abukawa, D., Sakamoto, O., Iinuma, K., Saheki, T. <strong>Neonatal presentation of adult-onset type II citrullinemia.</strong> Hum. Genet. 108: 87-90, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11281457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11281457</a>] [<a href="https://doi.org/10.1007/s004390000448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11281457">Ohura et al. (2001)</a> identified a child with neonatal-onset citrullinemia (<a href="/entry/605814">605814</a>) who was compound heterozygous for this mutation and an IVS11+1G-A mutation (<a href="#0002">603859.0002</a>) in the SLC25A13 gene. The patient pursued a favorable clinical course, and all biochemical abnormalities normalized by the age of 12 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11281457" 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="#7" class="mim-tip-reference" title="Tamamori, A., Okano, Y., Ozaki, H., Fujimoto, A., Kajiwara, M., Fukuda, K., Kobayashi, K., Saheki, T., Tagami, Y., Yamano, T. <strong>Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.</strong> Europ. J. Pediat. 161: 609-613, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12424587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12424587</a>] [<a href="https://doi.org/10.1007/s00431-002-1045-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12424587">Tamamori et al. (2002)</a> reported a patient with neonatal-onset citrullinemia who was compound heterozygous for the 4-bp deletion and IVS11+1G-A. She had an unusual disease course with a worsening of liver function at age 6 months, ultimately requiring a living-related liver transplant at 10 months of age. She had normal growth and mental development at age 3 years. <a href="#7" class="mim-tip-reference" title="Tamamori, A., Okano, Y., Ozaki, H., Fujimoto, A., Kajiwara, M., Fukuda, K., Kobayashi, K., Saheki, T., Tagami, Y., Yamano, T. <strong>Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.</strong> Europ. J. Pediat. 161: 609-613, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12424587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12424587</a>] [<a href="https://doi.org/10.1007/s00431-002-1045-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12424587">Tamamori et al. (2002)</a> noted that the same genotype had been identified in a patient with the usual course of spontaneous remission (<a href="#3" class="mim-tip-reference" title="Ohura, T., Kobayashi, K., Tazawa, Y., Nishi, I., Abukawa, D., Sakamoto, O., Iinuma, K., Saheki, T. <strong>Neonatal presentation of adult-onset type II citrullinemia.</strong> Hum. Genet. 108: 87-90, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11281457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11281457</a>] [<a href="https://doi.org/10.1007/s004390000448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11281457">Ohura et al., 2001</a>), suggesting that the severe phenotype was not due to the genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12424587+11281457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338722 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338722;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/rs80338722?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=rs80338722" 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=rs80338722" 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=RCV000006369 OR RCV000006370 OR RCV000808307 OR RCV001277073 OR RCV002259301 OR RCV004742216 OR RCV005031396" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006369, RCV000006370, RCV000808307, RCV001277073, RCV002259301, RCV004742216, RCV005031396" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006369...</a>
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<p><a href="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> found 5 patients with adult-onset type II citrullinemia (<a href="/entry/603471">603471</a>) who were homozygous for a G-to-A substitution at the 5-prime end of intron 11, resulting in abnormal splicing and deletion of exon 11 in mRNA. This caused loss of 53 amino acids (codons 340-392) within the first hydrophilic loop between the first and second predicted transmembrane (TM1 and TM2) domains of citrin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" 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="Ohura, T., Kobayashi, K., Tazawa, Y., Nishi, I., Abukawa, D., Sakamoto, O., Iinuma, K., Saheki, T. <strong>Neonatal presentation of adult-onset type II citrullinemia.</strong> Hum. Genet. 108: 87-90, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11281457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11281457</a>] [<a href="https://doi.org/10.1007/s004390000448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11281457">Ohura et al. (2001)</a> found homozygosity for this mutation in sibs who presented in the neonatal period (<a href="/entry/605814">605814</a>). Laboratory data suggested intrahepatic cholestasis. The sibs and a patient who was a compound heterozygote for this and the 4-bp deletion mutation (<a href="#0001">603859.0001</a>) pursued a favorable clinical course. All biochemical abnormalities normalized by the age of 12 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11281457" 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="#9" class="mim-tip-reference" title="Tomomasa, T., Kobayashi, K., Kaneko, H., Shimura, H., Fukusato, T., Tabata, M., Inoue, Y., Ohwada, S., Kasahara, M., Morishita, Y., Kimura, M., Saheki, T., Morikawa, A. <strong>Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.</strong> J. Pediat. 138: 741-743, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343053</a>] [<a href="https://doi.org/10.1067/mpd.2001.113361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343053">Tomomasa et al. (2001)</a> described 2 patients with type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed markedly fatty changes and fibrosis. Both patients were homozygous for the IVS11+1G-A mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 CITRULLINEMIA, TYPE II, ADULT-ONSET</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338725 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338725;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/rs80338725?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=rs80338725" 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=rs80338725" 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=RCV000006371 OR RCV000726889 OR RCV000822371 OR RCV001004526 OR RCV002259302 OR RCV004742217 OR RCV005031397" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006371, RCV000726889, RCV000822371, RCV001004526, RCV002259302, RCV004742217, RCV005031397" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006371...</a>
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<p>In a patient with adult-onset type II citrullinemia (<a href="/entry/603471">603471</a>), <a href="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> identified a 23-bp homozygous insertion in exon 16 of SLC25A13, 1638ins23, resulting in a frameshift at codon 554 and the addition of 16 new amino acids. A stop codon was introduced at position 570, leading to premature termination of the C terminus of citrin. The inserted sequence was apparently a tandem repeat of 23 bp from nucleotide 1638-1660 of SLC25A13 cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CITRULLINEMIA, TYPE II, ADULT-ONSET</strong>
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SLC25A13, SER225TER
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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> rs80338719 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338719;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/rs80338719?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=rs80338719" 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=rs80338719" 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=RCV000006372 OR RCV001004531 OR RCV001247797 OR RCV001826423 OR RCV003472982 OR RCV005031398" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006372, RCV001004531, RCV001247797, RCV001826423, RCV003472982, RCV005031398" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006372...</a>
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<p>In 2 patients with adult-onset type II citrullinemia (<a href="/entry/603471">603471</a>), <a href="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> found a nonsense mutation, ser225 to ter, resulting from a C-to-A substitution at position 674 in exon 7 that changed serine to a stop codon at position 225 and predicted premature termination of the protein. The patients were heterozygous for the mutation and had the 851del4 mutation (<a href="#0001">603859.0001</a>) on the other chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" 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>.0005 CITRULLINEMIA, TYPE II, ADULT-ONSET</strong>
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SLC25A13, IVS13DS, 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> rs80338723 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338723;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/rs80338723?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=rs80338723" 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=rs80338723" 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=RCV000006373 OR RCV000796573 OR RCV001277071 OR RCV003472983 OR RCV003488327 OR RCV004786241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006373, RCV000796573, RCV001277071, RCV003472983, RCV003488327, RCV004786241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006373...</a>
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<p>In a patient with adult-onset type II citrullinemia (<a href="/entry/603471">603471</a>), <a href="#2" class="mim-tip-reference" title="Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. <strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong> Nature Genet. 22: 159-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>] [<a href="https://doi.org/10.1038/9667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369257">Kobayashi et al. (1999)</a> found a splice site mutation, a G-to-A substitution at the 5-prime end of intron 13, resulting in the deletion of 27 amino acids (codons 411-437) between TM2 and TM3. The patient was a compound heterozygote for this mutation and the 851del4 mutation (<a href="#0001">603859.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" 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>.0006 CITRULLINEMIA, TYPE II, ADULT-ONSET</strong>
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CITRULLINEMIA, TYPE II, NEONATAL-ONSET, INCLUDED
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SLC25A13, 1-BP INS, NT1800
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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> rs80338726 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338726;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/rs80338726?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=rs80338726" 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=rs80338726" 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=RCV000006374 OR RCV000006375 OR RCV001060497 OR RCV001831516 OR RCV003472984 OR RCV004742218 OR RCV005031399" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006374, RCV000006375, RCV001060497, RCV001831516, RCV003472984, RCV004742218, RCV005031399" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006374...</a>
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<p><a href="#10" class="mim-tip-reference" title="Yasuda, T., Yamaguchi, N., Kobayashi, K., Nishi, I., Horinouchi, H., Jalil, M. A., Li, M. X., Ushikai, M., Iijima, M., Kondo, I., Saheki, T. <strong>Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.</strong> Hum. Genet. 107: 537-545, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11153906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11153906</a>] [<a href="https://doi.org/10.1007/s004390000430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11153906">Yasuda et al. (2000)</a> identified 2 patients with adult-onset type II citrullinemia (<a href="/entry/603471">603471</a>) who were compound heterozygous for the IVS11+1G-A mutation (<a href="#0002">603859.0002</a>) and a 1-bp insertion at nucleotide 1800, predicting premature termination (Y200X) of the C terminus of the SLC25A13 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11153906" 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="#8" class="mim-tip-reference" title="Tazawa, Y., Kobayashi, K., Ohura, T., Abukawa, D., Nishinomiya, F., Hosoda, Y., Yamashita, M., Nagata, I., Kono, Y., Yasuda, T., Yamaguchi, N., Saheki, T. <strong>Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.</strong> J. Pediat. 138: 735-740, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343052</a>] [<a href="https://doi.org/10.1067/mpd.2001.113264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343052">Tazawa et al. (2001)</a> identified the 1800ins1 mutation in compound heterozygous state with the S225X mutation (<a href="#0004">603859.0004</a>) in a child with neonatal-onset type II citrullinemia (<a href="/entry/605814">605814</a>). Liver histology showed fatty tissue without evidence of giant cell hepatitis, the usual finding in most forms of transient neonatal jaundice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343052" 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>.0007 CITRULLINEMIA, TYPE II, ADULT-ONSET</strong>
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SLC25A13, ARG588GLN
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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> rs121908532 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908532;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/rs121908532?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=rs121908532" 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=rs121908532" 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=RCV000006376 OR RCV000728351 OR RCV001267011 OR RCV001831517 OR RCV002508184 OR RCV003581555" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006376, RCV000728351, RCV001267011, RCV001831517, RCV002508184, RCV003581555" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006376...</a>
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<p>In a 38-year-old Pakistani man with episodic confusion and elevated plasma ammonia and arginine levels, citrullinemia (CTLN2; <a href="/entry/603471">603471</a>), normal glutamine, and low serine levels, who developed fatal hyperammonemic encephalopathy, <a href="#1" class="mim-tip-reference" title="Fiermonte, G., Soon, D., Chaudhuri, A., Paradies, E., Lee, P. J., Krywawych, S., Palmieri, F., Lachmann, R. H. <strong>An adult with type 2 citrullinemia presenting in Europe. (Letter)</strong> New Eng. J. Med. 358: 1408-1409, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18367750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18367750</a>] [<a href="https://doi.org/10.1056/NEJMc0707353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18367750">Fiermonte et al. (2008)</a> identified homozygosity for a 1763G-A transition in the SLC25A13 gene, resulting in an arg588-to-gln (R588Q) substitution at a highly conserved residue. Functional analysis of the mutant protein showed only about 10% of normal transport of aspartate and glutamate. The unrelated parents, who came from the same village in Pakistan, were heterozygous for the mutation, as were 3 other unaffected members of the pedigree; 2 unaffected members of the extended family were also found to be homozygous for the mutation but had no detectable biochemical abnormalities. The mutation was not found in 104 unrelated control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18367750" 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>REFERENCES</strong>
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Fiermonte, G., Soon, D., Chaudhuri, A., Paradies, E., Lee, P. J., Krywawych, S., Palmieri, F., Lachmann, R. H.
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<strong>An adult with type 2 citrullinemia presenting in Europe. (Letter)</strong>
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New Eng. J. Med. 358: 1408-1409, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18367750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18367750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18367750" 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/10.1056/NEJMc0707353" target="_blank">Full Text</a>]
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Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T.
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<strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong>
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Nature Genet. 22: 159-163, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/9667" target="_blank">Full Text</a>]
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Ohura, T., Kobayashi, K., Tazawa, Y., Nishi, I., Abukawa, D., Sakamoto, O., Iinuma, K., Saheki, T.
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<strong>Neonatal presentation of adult-onset type II citrullinemia.</strong>
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Hum. Genet. 108: 87-90, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11281457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11281457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11281457" 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/s004390000448" target="_blank">Full Text</a>]
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Roesch, K., Hynds, P. J., Varga, R., Tranebjaerg, L., Koehler, C. M.
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<strong>The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.</strong>
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Hum. Molec. Genet. 13: 2101-2111, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15254020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15254020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15254020" 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/hmg/ddh217" target="_blank">Full Text</a>]
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Saheki, T., Iijima, M., Li, M. X., Kobayashi, K., Horiuchi, M., Ushikai, M., Okumura, F., Meng, X. J., Inoue, I., Tajima, A., Moriyama, M., Eto, K., Kadowaki, T., Sinasac, D. S., Tsui, L.-C., Tsuji, M., Okano, A., Kobayashi, T.
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<strong>Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.</strong>
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J. Biol. Chem. 282: 25041-25052, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17591776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17591776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17591776" 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/10.1074/jbc.M702031200" target="_blank">Full Text</a>]
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Sinasac, D. S., Moriyama, M., Jalil, M. A., Begum, L., Li, M. X., Iijima, M., Horiuchi, M., Robinson, B. H., Kobayashi, K., Saheki, T., Tsui, L.-C.
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<strong>Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.</strong>
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Molec. Cell. Biol. 24: 527-536, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14701727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14701727</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14701727[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=14701727" 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/10.1128/MCB.24.2.527-536.2004" target="_blank">Full Text</a>]
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Tamamori, A., Okano, Y., Ozaki, H., Fujimoto, A., Kajiwara, M., Fukuda, K., Kobayashi, K., Saheki, T., Tagami, Y., Yamano, T.
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<strong>Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.</strong>
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Europ. J. Pediat. 161: 609-613, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12424587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12424587</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12424587" 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/s00431-002-1045-2" target="_blank">Full Text</a>]
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Tazawa, Y., Kobayashi, K., Ohura, T., Abukawa, D., Nishinomiya, F., Hosoda, Y., Yamashita, M., Nagata, I., Kono, Y., Yasuda, T., Yamaguchi, N., Saheki, T.
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<strong>Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.</strong>
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J. Pediat. 138: 735-740, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343052" 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/10.1067/mpd.2001.113264" target="_blank">Full Text</a>]
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Tomomasa, T., Kobayashi, K., Kaneko, H., Shimura, H., Fukusato, T., Tabata, M., Inoue, Y., Ohwada, S., Kasahara, M., Morishita, Y., Kimura, M., Saheki, T., Morikawa, A.
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<strong>Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.</strong>
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J. Pediat. 138: 741-743, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343053" 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/10.1067/mpd.2001.113361" target="_blank">Full Text</a>]
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Yasuda, T., Yamaguchi, N., Kobayashi, K., Nishi, I., Horinouchi, H., Jalil, M. A., Li, M. X., Ushikai, M., Iijima, M., Kondo, I., Saheki, T.
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<strong>Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.</strong>
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Hum. Genet. 107: 537-545, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11153906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11153906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11153906" 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/s004390000430" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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 - updated : 7/19/2011
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 6/25/2008<br>George E. Tiller - updated : 3/21/2007<br>Cassandra L. Kniffin - updated : 8/11/2004<br>Patricia A. Hartz - updated : 3/9/2004<br>Cassandra L. Kniffin - reorganized : 8/15/2002<br>Victor A. McKusick - updated : 8/5/2002<br>Victor A. McKusick - updated : 2/21/2002<br>Ada Hamosh - updated : 11/21/2001<br>Deborah L. Stone - updated : 11/21/2001<br>Victor A. McKusick - updated : 3/13/2001<br>Victor A. McKusick - updated : 12/18/2000
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<a id="creationDate" class="mim-anchor"></a>
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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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<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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Victor A. McKusick : 5/31/1999
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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 : 11/10/2016
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<span class="mim-text-font">
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carol : 09/24/2013<br>wwang : 7/29/2011<br>ckniffin : 7/19/2011<br>wwang : 7/2/2008<br>wwang : 7/1/2008<br>terry : 6/25/2008<br>wwang : 3/23/2007<br>terry : 3/21/2007<br>terry : 4/5/2005<br>carol : 8/11/2004<br>ckniffin : 8/11/2004<br>mgross : 3/25/2004<br>terry : 3/9/2004<br>cwells : 11/12/2003<br>carol : 8/15/2002<br>carol : 8/15/2002<br>ckniffin : 8/15/2002<br>tkritzer : 8/8/2002<br>tkritzer : 8/7/2002<br>tkritzer : 8/6/2002<br>terry : 8/5/2002<br>carol : 2/26/2002<br>terry : 2/21/2002<br>carol : 11/21/2001<br>carol : 11/21/2001<br>carol : 11/21/2001<br>carol : 4/4/2001<br>carol : 4/3/2001<br>cwells : 3/23/2001<br>terry : 3/13/2001<br>mcapotos : 1/18/2001<br>mcapotos : 1/4/2001<br>terry : 12/18/2000<br>alopez : 6/2/1999<br>carol : 6/1/1999<br>carol : 5/31/1999
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603859
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</h3>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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CITRIN
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC25A13</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 716863007, 717155003;
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<strong>
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<em>
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Cytogenetic location: 7q21.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:96,120,220-96,322,098 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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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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<td rowspan="2">
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<span class="mim-font">
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7q21.3
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<span class="mim-font">
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Citrullinemia, adult-onset type II
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</td>
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<td>
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<span class="mim-font">
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603471
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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Citrullinemia, type II, neonatal-onset
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</td>
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<td>
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<span class="mim-font">
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605814
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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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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<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>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>From information gathered from 18 individuals with citrullinemia type II (CTLN2; 603471, 605814) Kobayashi et al. (1999) used positional cloning and cDNA library screening to identify a novel gene, SLC25A13, which was found to encode a 675-amino acid protein with a molecular mass of 74 kD. The protein, termed citrin, is bipartite in structure, containing a mitochondrial carrier motif and 4 EF-hand domains. Northern blot analysis detected ubiquitous expression of a 3.4-kb transcript, with highest expression in liver. </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">
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<strong>Gene Function</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>Based on the structure of the citrin protein, Kobayashi et al. (1999) suggested that it is a calcium-dependent mitochondrial solute transporter with a role in urea cycle function. </p><p>Roesch et al. (2004) determined that citrin and aralar (SLC25A12; 603667), which are Ca(2+)-binding aspartate/glutamate carriers (AGC) of the mitochondrial inner membrane, are substrates for the TIMM8A (300356)/TIMM13 (607383) complex. The AGCs function in the aspartate-malate NADH shuttle that moves reducing equivalents from the cytosol to the mitochondrial matrix. Roesch et al. (2004) hypothesized that insufficient NADH shuttling, linked with changes in Ca(2+) concentration, in sensitive cells of the CNS might contribute to the pathologic process associated with Mohr-Tranebjaerg syndrome (MTS; 304700). </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">
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<strong>Gene Structure</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>Kobayashi et al. (1999) determined that SLC25A13 contains 18 exons and encompasses approximately 200 kb of DNA. </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">
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<strong>Mapping</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>Kobayashi et al. (1999) studied 118 CTLN2 families and localized the CTLN2 locus to chromosome 7q21.3 by homozygosity mapping analysis of individuals from 18 consanguineous unions. </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">
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<strong>Molecular Genetics</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><strong><em>Adult-Onset Type II Citrullinemia</em></strong></p><p>
|
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In 18 adult patients with CTLN2 from consanguineous parents, Kobayashi et al. (1999) identified 5 distinct mutations (603859.0001-603859.0005) in the SLC25A13 gene and confirmed their causative role in the disease. The 5 recessive mutations all predicted truncation of the protein or loss of the loop between transmembrane-spanning regions, making it unlikely that the mutant protein would be translocated into the mitochondrial membrane. </p><p>The studies of adult-onset type II citrullinemia in Japanese were extended by Yasuda et al. (2000), who identified 2 novel mutations in the SLC25A13 gene. Diagnostic analysis for the 7 known mutations in 103 CTLN2 patients diagnosed by biochemical and enzymatic studies revealed that 102 patients had 1 or 2 of the 7 mutations and 93 patients were homozygotes or compound heterozygotes. Five of 22 patients from consanguineous unions were compound heterozygotes, suggesting a high frequency of the mutated genes. By Western blot analysis with antihuman citrin antibody, Yasuda et al. (2000) detected no cross-reactive immune materials in the liver of CTLN2 patients with any of the 7 mutations and thus hypothesized that CTLN2 is caused by a complete deletion of citrin. </p><p>In a Pakistani man living in Europe who had episodic confusion and developed fatal hyperammonemic encephalopathy, Fiermonte et al. (2008) identified homozygosity for a missense mutation in the SLC25A13 gene (R588Q; 603859.0007). The authors noted that type II citrullinemia has rarely been reported outside of East Asia but must be considered in adults presenting with hyperammonemic encephalopathy. </p><p><strong><em>Neonatal-Onset Type II Citrullinemia</em></strong></p><p>
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|
Ohura et al. (2001) described children with neonatal onset of type II citrullinemia (605814) due to mutations in the SLC25A13 gene. One patient was a compound heterozygote for the 851del4 (603859.0001) and IVS11+1G-A (603859.0002) mutations; 2 sibs were homozygotes for the latter mutation. </p><p>Tazawa et al. (2001) described 3 children with neonatal onset of type II citrullinemia who presented between 1 and 5 months of age with cholestatic jaundice and were found to have mutations in the SLC25A13 gene. </p><p>Tamamori et al. (2002) reported 5 patients with neonatal intrahepatic cholestasis caused by citrin deficiency and confirmed by mutation analysis. </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">
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<strong>Animal Model</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>Sinasac et al. (2004) developed Slc25a13-null mice. Liver mitochondrial assays revealed markedly decreased activities in aspartate transport and the malate-aspartate shuttle. Liver perfusion demonstrated deficits in ureagenesis from ammonia, gluconeogenesis from lactate, and an increase in the lactate-to-pyruvate ratio within hepatocytes. Slc25a13-null mice up to 1 year of age failed to show CTLN2-like symptoms due to normal hepatic argininosuccinate synthetase (ASS; 603470) activity. Serologic measures of glucose, amino acid, and ammonia metabolism also showed no significant changes. Nitrogen-loading treatments produced only minor changes in the hepatic ammonia and amino acid levels. Sinasac et al. (2004) hypothesized that Slc25a13 deficiency alone may be insufficient to produce a CTLN2-like phenotype in mice. Their observations were compatible, however, with the variable age of onset, incomplete penetrance, and strong ethnic bias seen in CTLN2 where additional environmental and/or genetic triggers may be involved. </p><p>Slc25a13-knockout mice show reduced mitochondrial Asp transport, but have no apparent phenotype, likely due to increased hepatic activity of mitochondrial glycerol-3-phosphate dehydrogenase (GPD2; 138430), which can transport NADH reducing equivalents into mitochondria. Saheki et al. (2007) found that mice with a combined disruption of the Slc25a13 and Gpd2 genes had poor growth and developed citrullinemia, hyperammonemia, hypoglycemia, and fatty liver, all features of human citrin deficiency. An altered cytosolic NADH/NAD(+) ratio was closely associated with hyperammonemia. The data indicated that the more severe phenotype present in the Slc25a13/Gpd2 double-knockout mice represents a more accurate model of human citrin deficiency than Slc25a13-knockout mice. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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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">
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<strong>.0001 CITRULLINEMIA, TYPE II, ADULT-ONSET</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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CITRULLINEMIA, TYPE II, NEONATAL-ONSET, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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SLC25A13, 4-BP DEL, 851GTAT
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<br />
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SNP: rs80338720,
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ClinVar: RCV000006368, RCV000239614, RCV000344746, RCV000724667, RCV001272102, RCV002259321, RCV002503835, RCV003417766
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Kobayashi et al. (1999) found that 9 patients with adult-onset type II citrullinemia (603471) were homozygous for a 4-bp (GTAT) deletion from nucleotide 851 in exon 9, predicting a frameshift and introduction of a stop codon at position 286, leading to premature termination of the protein. Three other patients were heterozygous for the mutation. </p><p>Ohura et al. (2001) identified a child with neonatal-onset citrullinemia (605814) who was compound heterozygous for this mutation and an IVS11+1G-A mutation (603859.0002) in the SLC25A13 gene. The patient pursued a favorable clinical course, and all biochemical abnormalities normalized by the age of 12 months. </p><p>Tamamori et al. (2002) reported a patient with neonatal-onset citrullinemia who was compound heterozygous for the 4-bp deletion and IVS11+1G-A. She had an unusual disease course with a worsening of liver function at age 6 months, ultimately requiring a living-related liver transplant at 10 months of age. She had normal growth and mental development at age 3 years. Tamamori et al. (2002) noted that the same genotype had been identified in a patient with the usual course of spontaneous remission (Ohura et al., 2001), suggesting that the severe phenotype was not due to the genotype. </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">
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<strong>.0002 CITRULLINEMIA, TYPE II, ADULT-ONSET</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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CITRULLINEMIA, TYPE II, NEONATAL-ONSET, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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SLC25A13, IVS11DS, G-A, +1
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<br />
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SNP: rs80338722,
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gnomAD: rs80338722,
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ClinVar: RCV000006369, RCV000006370, RCV000808307, RCV001277073, RCV002259301, RCV004742216, RCV005031396
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Kobayashi et al. (1999) found 5 patients with adult-onset type II citrullinemia (603471) who were homozygous for a G-to-A substitution at the 5-prime end of intron 11, resulting in abnormal splicing and deletion of exon 11 in mRNA. This caused loss of 53 amino acids (codons 340-392) within the first hydrophilic loop between the first and second predicted transmembrane (TM1 and TM2) domains of citrin. </p><p>Ohura et al. (2001) found homozygosity for this mutation in sibs who presented in the neonatal period (605814). Laboratory data suggested intrahepatic cholestasis. The sibs and a patient who was a compound heterozygote for this and the 4-bp deletion mutation (603859.0001) pursued a favorable clinical course. All biochemical abnormalities normalized by the age of 12 months. </p><p>Tomomasa et al. (2001) described 2 patients with type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed markedly fatty changes and fibrosis. Both patients were homozygous for the IVS11+1G-A mutation. </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">
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<strong>.0003 CITRULLINEMIA, TYPE II, ADULT-ONSET</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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SLC25A13, 23-BP INS, NT1638
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<br />
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SNP: rs80338725,
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gnomAD: rs80338725,
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ClinVar: RCV000006371, RCV000726889, RCV000822371, RCV001004526, RCV002259302, RCV004742217, RCV005031397
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with adult-onset type II citrullinemia (603471), Kobayashi et al. (1999) identified a 23-bp homozygous insertion in exon 16 of SLC25A13, 1638ins23, resulting in a frameshift at codon 554 and the addition of 16 new amino acids. A stop codon was introduced at position 570, leading to premature termination of the C terminus of citrin. The inserted sequence was apparently a tandem repeat of 23 bp from nucleotide 1638-1660 of SLC25A13 cDNA. </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>.0004 CITRULLINEMIA, TYPE II, ADULT-ONSET</strong>
|
|
</span>
|
|
</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC25A13, SER225TER
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<br />
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SNP: rs80338719,
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gnomAD: rs80338719,
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ClinVar: RCV000006372, RCV001004531, RCV001247797, RCV001826423, RCV003472982, RCV005031398
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 patients with adult-onset type II citrullinemia (603471), Kobayashi et al. (1999) found a nonsense mutation, ser225 to ter, resulting from a C-to-A substitution at position 674 in exon 7 that changed serine to a stop codon at position 225 and predicted premature termination of the protein. The patients were heterozygous for the mutation and had the 851del4 mutation (603859.0001) on the other chromosome. </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>.0005 CITRULLINEMIA, TYPE II, ADULT-ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
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|
SLC25A13, IVS13DS, G-A, +1
|
|
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<br />
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|
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SNP: rs80338723,
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|
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gnomAD: rs80338723,
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|
|
|
|
|
ClinVar: RCV000006373, RCV000796573, RCV001277071, RCV003472983, RCV003488327, RCV004786241
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with adult-onset type II citrullinemia (603471), Kobayashi et al. (1999) found a splice site mutation, a G-to-A substitution at the 5-prime end of intron 13, resulting in the deletion of 27 amino acids (codons 411-437) between TM2 and TM3. The patient was a compound heterozygote for this mutation and the 851del4 mutation (603859.0001). </p>
|
|
</span>
|
|
</div>
|
|
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<div>
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|
<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 CITRULLINEMIA, TYPE II, ADULT-ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC25A13, 1-BP INS, NT1800
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338726,
|
|
|
|
|
|
gnomAD: rs80338726,
|
|
|
|
|
|
ClinVar: RCV000006374, RCV000006375, RCV001060497, RCV001831516, RCV003472984, RCV004742218, RCV005031399
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Yasuda et al. (2000) identified 2 patients with adult-onset type II citrullinemia (603471) who were compound heterozygous for the IVS11+1G-A mutation (603859.0002) and a 1-bp insertion at nucleotide 1800, predicting premature termination (Y200X) of the C terminus of the SLC25A13 gene. </p><p>Tazawa et al. (2001) identified the 1800ins1 mutation in compound heterozygous state with the S225X mutation (603859.0004) in a child with neonatal-onset type II citrullinemia (605814). Liver histology showed fatty tissue without evidence of giant cell hepatitis, the usual finding in most forms of transient neonatal jaundice. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CITRULLINEMIA, TYPE II, ADULT-ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC25A13, ARG588GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908532,
|
|
|
|
|
|
gnomAD: rs121908532,
|
|
|
|
|
|
ClinVar: RCV000006376, RCV000728351, RCV001267011, RCV001831517, RCV002508184, RCV003581555
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 38-year-old Pakistani man with episodic confusion and elevated plasma ammonia and arginine levels, citrullinemia (CTLN2; 603471), normal glutamine, and low serine levels, who developed fatal hyperammonemic encephalopathy, Fiermonte et al. (2008) identified homozygosity for a 1763G-A transition in the SLC25A13 gene, resulting in an arg588-to-gln (R588Q) substitution at a highly conserved residue. Functional analysis of the mutant protein showed only about 10% of normal transport of aspartate and glutamate. The unrelated parents, who came from the same village in Pakistan, were heterozygous for the mutation, as were 3 other unaffected members of the pedigree; 2 unaffected members of the extended family were also found to be homozygous for the mutation but had no detectable biochemical abnormalities. The mutation was not found in 104 unrelated control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
</div>
|
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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">
|
|
Fiermonte, G., Soon, D., Chaudhuri, A., Paradies, E., Lee, P. J., Krywawych, S., Palmieri, F., Lachmann, R. H.
|
|
<strong>An adult with type 2 citrullinemia presenting in Europe. (Letter)</strong>
|
|
New Eng. J. Med. 358: 1408-1409, 2008.
|
|
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|
|
[PubMed: 18367750]
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[Full Text: https://doi.org/10.1056/NEJMc0707353]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T.
|
|
<strong>The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.</strong>
|
|
Nature Genet. 22: 159-163, 1999.
|
|
|
|
|
|
[PubMed: 10369257]
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|
|
[Full Text: https://doi.org/10.1038/9667]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ohura, T., Kobayashi, K., Tazawa, Y., Nishi, I., Abukawa, D., Sakamoto, O., Iinuma, K., Saheki, T.
|
|
<strong>Neonatal presentation of adult-onset type II citrullinemia.</strong>
|
|
Hum. Genet. 108: 87-90, 2001.
|
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|
|
[PubMed: 11281457]
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[Full Text: https://doi.org/10.1007/s004390000448]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Roesch, K., Hynds, P. J., Varga, R., Tranebjaerg, L., Koehler, C. M.
|
|
<strong>The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.</strong>
|
|
Hum. Molec. Genet. 13: 2101-2111, 2004.
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|
[PubMed: 15254020]
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[Full Text: https://doi.org/10.1093/hmg/ddh217]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Saheki, T., Iijima, M., Li, M. X., Kobayashi, K., Horiuchi, M., Ushikai, M., Okumura, F., Meng, X. J., Inoue, I., Tajima, A., Moriyama, M., Eto, K., Kadowaki, T., Sinasac, D. S., Tsui, L.-C., Tsuji, M., Okano, A., Kobayashi, T.
|
|
<strong>Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.</strong>
|
|
J. Biol. Chem. 282: 25041-25052, 2007.
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[PubMed: 17591776]
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[Full Text: https://doi.org/10.1074/jbc.M702031200]
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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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Sinasac, D. S., Moriyama, M., Jalil, M. A., Begum, L., Li, M. X., Iijima, M., Horiuchi, M., Robinson, B. H., Kobayashi, K., Saheki, T., Tsui, L.-C.
|
|
<strong>Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.</strong>
|
|
Molec. Cell. Biol. 24: 527-536, 2004.
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|
|
[PubMed: 14701727]
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[Full Text: https://doi.org/10.1128/MCB.24.2.527-536.2004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tamamori, A., Okano, Y., Ozaki, H., Fujimoto, A., Kajiwara, M., Fukuda, K., Kobayashi, K., Saheki, T., Tagami, Y., Yamano, T.
|
|
<strong>Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.</strong>
|
|
Europ. J. Pediat. 161: 609-613, 2002.
|
|
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|
|
[PubMed: 12424587]
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|
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[Full Text: https://doi.org/10.1007/s00431-002-1045-2]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tazawa, Y., Kobayashi, K., Ohura, T., Abukawa, D., Nishinomiya, F., Hosoda, Y., Yamashita, M., Nagata, I., Kono, Y., Yasuda, T., Yamaguchi, N., Saheki, T.
|
|
<strong>Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.</strong>
|
|
J. Pediat. 138: 735-740, 2001.
|
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|
|
[PubMed: 11343052]
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|
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[Full Text: https://doi.org/10.1067/mpd.2001.113264]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tomomasa, T., Kobayashi, K., Kaneko, H., Shimura, H., Fukusato, T., Tabata, M., Inoue, Y., Ohwada, S., Kasahara, M., Morishita, Y., Kimura, M., Saheki, T., Morikawa, A.
|
|
<strong>Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.</strong>
|
|
J. Pediat. 138: 741-743, 2001.
|
|
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|
|
[PubMed: 11343053]
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[Full Text: https://doi.org/10.1067/mpd.2001.113361]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Yasuda, T., Yamaguchi, N., Kobayashi, K., Nishi, I., Horinouchi, H., Jalil, M. A., Li, M. X., Ushikai, M., Iijima, M., Kondo, I., Saheki, T.
|
|
<strong>Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.</strong>
|
|
Hum. Genet. 107: 537-545, 2000.
|
|
|
|
|
|
[PubMed: 11153906]
|
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|
|
[Full Text: https://doi.org/10.1007/s004390000430]
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</p>
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</li>
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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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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<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 - updated : 7/19/2011<br>Marla J. F. O'Neill - updated : 6/25/2008<br>George E. Tiller - updated : 3/21/2007<br>Cassandra L. Kniffin - updated : 8/11/2004<br>Patricia A. Hartz - updated : 3/9/2004<br>Cassandra L. Kniffin - reorganized : 8/15/2002<br>Victor A. McKusick - updated : 8/5/2002<br>Victor A. McKusick - updated : 2/21/2002<br>Ada Hamosh - updated : 11/21/2001<br>Deborah L. Stone - updated : 11/21/2001<br>Victor A. McKusick - updated : 3/13/2001<br>Victor A. McKusick - updated : 12/18/2000
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Victor A. McKusick : 5/31/1999
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carol : 11/10/2016<br>carol : 09/24/2013<br>wwang : 7/29/2011<br>ckniffin : 7/19/2011<br>wwang : 7/2/2008<br>wwang : 7/1/2008<br>terry : 6/25/2008<br>wwang : 3/23/2007<br>terry : 3/21/2007<br>terry : 4/5/2005<br>carol : 8/11/2004<br>ckniffin : 8/11/2004<br>mgross : 3/25/2004<br>terry : 3/9/2004<br>cwells : 11/12/2003<br>carol : 8/15/2002<br>carol : 8/15/2002<br>ckniffin : 8/15/2002<br>tkritzer : 8/8/2002<br>tkritzer : 8/7/2002<br>tkritzer : 8/6/2002<br>terry : 8/5/2002<br>carol : 2/26/2002<br>terry : 2/21/2002<br>carol : 11/21/2001<br>carol : 11/21/2001<br>carol : 11/21/2001<br>carol : 4/4/2001<br>carol : 4/3/2001<br>cwells : 3/23/2001<br>terry : 3/13/2001<br>mcapotos : 1/18/2001<br>mcapotos : 1/4/2001<br>terry : 12/18/2000<br>alopez : 6/2/1999<br>carol : 6/1/1999<br>carol : 5/31/1999
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