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Entry
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- *613742 - GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
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- OMIM
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<p>
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<span class="h4">*613742</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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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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/613742">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="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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 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="mimGenome">
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<span class="panel-title">
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<span class="small">
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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=ENSG00000131482;t=ENST00000253801" 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=2538" 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=613742" 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="mimDna">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</div>
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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=ENSG00000131482;t=ENST00000253801" 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_000151,NM_001270397" 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_000151" 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=613742" 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://www.proteinatlas.org/search/G6PC1" 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/452444,1296627,4206372,119581305,119581306,120659894,187953231,189054175,194383528,206729864,393537031,393537072,2192875432" 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/P35575" 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 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=2538" 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=ENSG00000131482;t=ENST00000253801" 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=G6PC1" 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=G6PC1" 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+2538" 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/G6PC1" 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:2538" 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/2538" 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=chr17&hgg_gene=ENST00000253801.7&hgg_start=42900799&hgg_end=42914438&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4056" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/g6pc1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613742[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=613742[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://www.deciphergenomics.org/gene/G6PC1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000131482" 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=G6PC1" 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=G6PC1" 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=G6PC1" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=G6PC1&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/PA166351807" 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:4056" 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/FBgn0031463.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:95607" 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/G6PC1#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:95607" 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/2538/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA000418/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2538" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-031001-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2538" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=G6PC1&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> 444707001<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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613742
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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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GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GLUCOSE-6-PHOSPHATASE, CATALYTIC, 1; G6PC1<br />
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G6PT, FORMERLY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=G6PC1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">G6PC1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/17/603?start=-3&limit=10&highlight=603">17q21.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:42900799-42914438&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'})">17:42,900,799-42,914,438</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>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/17/603?start=-3&limit=10&highlight=603">
|
|
17q21.31
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Glycogen storage disease Ia
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/232200"> 232200 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613742" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613742" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></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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<a id="text" class="mim-anchor"></a>
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<h4>
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p>Glucose-6-phosphatase (G6PC; <a href="https://enzyme.expasy.org/EC/3.1.3.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.1.3.9</a>), the key enzyme in the homeostasis regulation of blood glucose concentrations, catalyzes the terminal step in gluconeogenesis and glycogenolysis (summary by <a href="#11" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. <strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong> Science 262: 580-583, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8211187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8211187</a>] [<a href="https://doi.org/10.1126/science.8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8211187">Lei et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" 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="#11" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. <strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong> Science 262: 580-583, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8211187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8211187</a>] [<a href="https://doi.org/10.1126/science.8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8211187">Lei et al. (1993)</a> cloned human G6PC from a liver cDNA library. G6PC encodes a predicted 357-amino acid protein with an endoplasmic reticulum (ER) retention signal and 6 putative membrane-spanning segments. The expressed protein is indistinguishable from human microsomal G6Pase. <a href="#11" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. <strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong> Science 262: 580-583, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8211187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8211187</a>] [<a href="https://doi.org/10.1126/science.8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8211187">Lei et al. (1993)</a> stated that the gene had previously eluded molecular characterization primarily because of its tight association with the ER and nuclear membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" 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="#15" class="mim-tip-reference" title="Shelly, L. L., Lei, K.-J., Pan, C.-J., Sakata, S. F., Ruppert, S., Schutz, G., Chou, J. Y. <strong>Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong> J. Biol. Chem. 268: 21482-21485, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8407995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8407995</a>]" pmid="8407995">Shelly et al. (1993)</a> isolated cDNAs encoding G6Pase by taking advantage of an albino deletion mutant mouse that is known to express markedly reduced levels of G6Pase activity. The primary defect of this mutant mouse is a loss of the fumarylacetoacetate hydrolase gene (FAH; <a href="/entry/613871">613871</a>) located near the albino locus on chromosome 7. Fumarylacetoacetate hydrolase (or fumarylacetoacetase) is the final enzyme in the tyrosine degradation pathway, and a deficiency of this enzyme leads to the accumulation of toxic tyrosine metabolites, resulting in reduced expression of a group of liver-specific proteins, including G6Pase. Newborn homozygous deletion mice develop hypoglycemia shortly after birth, correlating with undetectable levels of G6Pase activity. <a href="#15" class="mim-tip-reference" title="Shelly, L. L., Lei, K.-J., Pan, C.-J., Sakata, S. F., Ruppert, S., Schutz, G., Chou, J. Y. <strong>Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong> J. Biol. Chem. 268: 21482-21485, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8407995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8407995</a>]" pmid="8407995">Shelly et al. (1993)</a> isolated a full-length cDNA encoding murine liver microsomal G6Pase by screening a normal mouse liver cDNA library differentially with probes representing mRNA populations from the normal and the albino deletion mutant mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8407995" 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="#11" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. <strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong> Science 262: 580-583, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8211187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8211187</a>] [<a href="https://doi.org/10.1126/science.8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8211187">Lei et al. (1993)</a> determined that the G6PC gene contains 5 exons and spans approximately 12.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" 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="#15" class="mim-tip-reference" title="Shelly, L. L., Lei, K.-J., Pan, C.-J., Sakata, S. F., Ruppert, S., Schutz, G., Chou, J. Y. <strong>Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong> J. Biol. Chem. 268: 21482-21485, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8407995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8407995</a>]" pmid="8407995">Shelly et al. (1993)</a> showed that the mouse G6Pase transcription unit spans approximately 10 kb and contains 5 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8407995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of somatic cell hybrids, <a href="#10" class="mim-tip-reference" title="Lei, K.-J., Pan, C.-J., Shelly, L. L., Liu, J.-L., Chou, J. Y. <strong>Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong> J. Clin. Invest. 93: 1994-1999, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8182131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8182131</a>] [<a href="https://doi.org/10.1172/JCI117192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8182131">Lei et al. (1994)</a> mapped the G6PC gene to chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8182131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the course of constructing a transcription map of approximately 600 kb of genomic DNA surrounding the BRCA1 gene (<a href="/entry/113705">113705</a>), <a href="#2" class="mim-tip-reference" title="Brody, L. C., Abel, K. J., Castilla, L. H., Couch, F. J., McKinley, D. R., Yin, G.-Y., Ho, P. P., Merajver, S., Chandrasekharappa, S. C., Xu, J., Cole, J. L., Struewing, J. P., Valdes, J. M., Collins, F. S., Weber, B. L. <strong>Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.</strong> Genomics 25: 238-247, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7774924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7774924</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80131-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7774924">Brody et al. (1995)</a> identified the G6PC gene, thus regionalizing its assignment to 17q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7774924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 patients with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#11" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. <strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong> Science 262: 580-583, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8211187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8211187</a>] [<a href="https://doi.org/10.1126/science.8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8211187">Lei et al. (1993)</a> identified homozygous and compound heterozygous mutations, respectively, in the G6PC gene (<a href="#0001">613742.0001</a>-<a href="#0003">613742.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" 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="Lei, K.-J., Chen, Y.-T., Chen, H., Wong, L.-J. C., Liu, J.-L., McConkie-Rosell, A., Van Hove, J. L. K., Ou, H. C.-Y., Yeh, N. J., Pan, L. Y., Chou, J. Y. <strong>Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.</strong> Am. J. Hum. Genet. 57: 766-771, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573034</a>]" pmid="7573034">Lei et al. (1995)</a> used SSCP analysis and DNA sequencing to characterize the G6PC gene of 70 unrelated patients with enzymatically confirmed diagnosis of type Ia GSD and detected mutations in all except 17 alleles (88%). They uncovered 16 mutations that were shown by expression to abolish or greatly reduce G6Pase activity and that, therefore, were responsible for the clinical disorder. R83C (<a href="#0002">613742.0002</a>) and Q347X (<a href="#0004">613742.0004</a>) were the most prevalent mutations found in Caucasians; 130X (<a href="#0001">613742.0001</a>) and R83C were most prevalent in Hispanics; R83H was most prevalent in Chinese. The Q347X mutation was identified only in Caucasians, and the 130X mutation was identified only in Hispanic patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573034" 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="#6" class="mim-tip-reference" title="Kajihara, S., Matsuhashi, S., Yamamoto, K., Kido, K., Tsuji, K., Tanae, A., Fujiyama, S., Itoh, T., Tanigawa, K., Uchida, M., Setoguchi, Y., Motomura, M., Mizuta, T., Sakai, T. <strong>Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.</strong> Am. J. Hum. Genet. 57: 549-555, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668282</a>]" pmid="7668282">Kajihara et al. (1995)</a> identified a splice mutation in exon 5 (727G-T) of the G6PC cDNA from the liver of a Japanese patient with GSD type Ia (<a href="#0005">613742.0005</a>). Another 8 unrelated Japanese families with a total of 9 affected individuals were found to have the same mutation, thus representing 91% of patients and carriers of GSD Ia in Japan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668282" 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="Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I. <strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong> J. Med. Genet. 33: 358-360, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733042</a>] [<a href="https://doi.org/10.1136/jmg.33.5.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733042">Chevalier-Porst et al. (1996)</a> sequenced both alleles of 24 French GSD type Ia patients; 14 different mutations were found, allowing the identification of complete genotypes for all the patients. These included 9 new mutations. Five mutations, Q347X, R83C, D38V (<a href="#0006">613742.0006</a>), G188R (<a href="#0012">613742.0012</a>), and 158Cdel, accounted for 75% of the mutated alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" 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="#13" class="mim-tip-reference" title="Parvari, R., Lei, K.-J., Bashan, N., Hershkovitz, E., Korman, S. H., Barash, V., Lerman-Sagie, T., Mandel, H., Chou, J. Y., Moses, S. W. <strong>Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.</strong> Am. J. Med. Genet. 72: 286-290, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9332655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9332655</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9332655">Parvari et al. (1997)</a> reported the biochemical and clinical characteristics as well as mutation analyses of 12 Israeli GSD Ia patients of different families, who represent most of the GSD Ia patients in Israel. All 9 Jewish patients, as well as a Muslim Arab patient, were found to have the R83C mutation (<a href="#0002">613742.0002</a>). Two Muslim Arab patients had the val166-to-gly (V166G) mutation (<a href="#0014">613742.0014</a>), which had not been found in other populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332655" 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="#1" class="mim-tip-reference" title="Akanuma, J., Nishigaki, T., Fujii, K., Matsubara, Y., Inui, K., Takahashi, K., Kure, S., Suzuki, Y., Ohura, T., Miyabayashi, S., Ogawa, E., Iinuma, K., Okada, S., Narisawa, K. <strong>Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.</strong> Am. J. Med. Genet. 91: 107-112, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10748407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10748407</a>]" pmid="10748407">Akanuma et al. (2000)</a> identified G6PC mutations in all alleles from 51 unrelated Japanese patients with GSD Ia. A total of 7 mutations were identified, including 3 novel mutations. The most prevalent mutation, 727G-T, accounting for 88 of 102 mutant alleles, creates an aberrant 3-prime splice site within exon 5. The authors demonstrated that ectopically transcribed G6Pase mRNA can be detected in lymphoblastoid cells and may be used for the characterization of mutations that affect mRNA splicing. They concluded that noninvasive molecular diagnosis may ultimately replace the conventional method of enzymatic diagnosis that requires liver biopsy in Japanese patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10748407" 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="#16" class="mim-tip-reference" title="Stroppiano, M., Regis, S., DiRocco, M., Caroli, F., Gandullia, P., Gatti, R. <strong>Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.</strong> J. Inherit. Metab. Dis. 22: 43-49, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10070617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10070617</a>] [<a href="https://doi.org/10.1023/a:1005495131118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10070617">Stroppiano et al. (1999)</a> analyzed the G6Pase gene in 53 unrelated Italian patients and identified 88 mutant alleles (82.6%) with 18 (17.4%) remaining unidentified. The most prevalent mutation was R83C (46.2%), followed by Q347X (20.7%); 3 other mutations (R295C, D38V, and G270V) accounted for 5.6% of disease alleles. The authors suggested that noninvasive screening could be used in Italian patients clinically suspected of having GSD Ia, particularly in those from Sicily, where the R83C mutation was present in 80% of mutant alleles. In all of 13 unrelated Korean patients with GSD Ia, <a href="#7" class="mim-tip-reference" title="Ki, C.-S., Han, S.-H., Kim, H.-J., Lee, S.-G., Kim, E.-J., Kim, J.-W., Choe, Y. H., Seo, J. K., Chang, Y. J., Park, J. Y. <strong>Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.</strong> Clin. Genet. 65: 487-489, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15151508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15151508</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00260.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15151508">Ki et al. (2004)</a> identified mutant alleles of the G6PC gene. Three known mutations and 2 novel mutations were identified. The most frequent mutant allele was 727G-T, present in 21 of 26 alleles (81%), which was slightly lower than that in Japanese, where it was present in 86 alleles (92%), but much higher than that in Taiwan Chinese (present in 44.4% of alleles). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10070617+15151508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613742[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In a patient with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#11" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. <strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong> Science 262: 580-583, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8211187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8211187</a>] [<a href="https://doi.org/10.1126/science.8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8211187">Lei et al. (1993)</a> found a 2-bp insertion at nucleotide 459 (TAins459) in exon 3 of the G6PC gene. The insertion caused a frameshift with generation of a stop codon at nucleotides 467-469. The predicted gene product was a severely truncated protein of 129 amino acids. The patient was homozygous for the TA insertion and the mother, the only parent available, was heterozygous. <a href="#9" class="mim-tip-reference" title="Lei, K.-J., Chen, Y.-T., Chen, H., Wong, L.-J. C., Liu, J.-L., McConkie-Rosell, A., Van Hove, J. L. K., Ou, H. C.-Y., Yeh, N. J., Pan, L. Y., Chou, J. Y. <strong>Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.</strong> Am. J. Hum. Genet. 57: 766-771, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573034</a>]" pmid="7573034">Lei et al. (1995)</a> referred to this mutation as 130X referring to the number of the stop codon that was generated by the frameshift. The 130X mutation had been identified only in Hispanic patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7573034+8211187" 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> rs1801175 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1801175;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/rs1801175?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=rs1801175" 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=rs1801175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#11" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. <strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong> Science 262: 580-583, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8211187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8211187</a>] [<a href="https://doi.org/10.1126/science.8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8211187">Lei et al. (1993)</a> concluded that a patient with type Ia glycogen storage disease (GSD1A; <a href="/entry/232200">232200</a>) was a compound heterozygote for 2 different G6PC mutations: arg83-to-cys (R83C) and arg295-to-cys (R295C; <a href="#0003">613742.0003</a>), located in exons 2 and 5, respectively. The exon 5 mutation came from the father and the exon 2 mutation from the mother. Both mutations were thought to involve a CpG doublet. <a href="#10" class="mim-tip-reference" title="Lei, K.-J., Pan, C.-J., Shelly, L. L., Liu, J.-L., Chou, J. Y. <strong>Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong> J. Clin. Invest. 93: 1994-1999, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8182131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8182131</a>] [<a href="https://doi.org/10.1172/JCI117192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8182131">Lei et al. (1994)</a> demonstrated that the R83C mutant has no detectable phosphohydrolase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8182131+8211187" 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 patient originally reported by <a href="#3" class="mim-tip-reference" title="Burchell, A., Waddell, I. D. <strong>Diagnosis of a novel glycogen storage disease: type 1aSP.</strong> J. Inherit. Metab. Dis. 13: 247-249, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2172641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2172641</a>] [<a href="https://doi.org/10.1007/BF01799362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2172641">Burchell and Waddell (1990)</a> as having a novel form of type I glycogen storage disease due to a defect in the 21-kD stabilizing protein SP, <a href="#9" class="mim-tip-reference" title="Lei, K.-J., Chen, Y.-T., Chen, H., Wong, L.-J. C., Liu, J.-L., McConkie-Rosell, A., Van Hove, J. L. K., Ou, H. C.-Y., Yeh, N. J., Pan, L. Y., Chou, J. Y. <strong>Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.</strong> Am. J. Hum. Genet. 57: 766-771, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573034</a>]" pmid="7573034">Lei et al. (1995)</a> demonstrated that in fact there was an R83C mutation in exon 2 of the G6PC gene. They found the same mutation in both homozygous and heterozygous form in patients with standard GSD type Ia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7573034+2172641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Qu, Y., Abdenur, J. E., Eng, C. M., Desnick, R. J. <strong>Molecular prenatal diagnosis of glycogen storage disease type Ia.</strong> Prenatal Diag. 16: 333-336, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8734807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8734807</a>] [<a href="https://doi.org/10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8734807">Qu et al. (1996)</a> performed prenatal diagnosis by chorionic villus sampling in an Ashkenazi Jewish family in which a previous child was homoallelic and both parents were heterozygous for the R83C mutation. Molecular analysis showed that the fetus was not affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8734807" 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="#13" class="mim-tip-reference" title="Parvari, R., Lei, K.-J., Bashan, N., Hershkovitz, E., Korman, S. H., Barash, V., Lerman-Sagie, T., Mandel, H., Chou, J. Y., Moses, S. W. <strong>Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.</strong> Am. J. Med. Genet. 72: 286-290, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9332655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9332655</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9332655">Parvari et al. (1997)</a> found that the R83C mutation was present in all Ashkenazi Jewish patients studied in Israel, suggesting that DNA-based diagnosis may be used as an initial diagnostic step in this population, thus avoiding liver biopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Ekstein, J., Rubin, B. Y., Anderson, S. L., Weinstein, D. A., Bach, G., Abeliovich, D., Webb, M., Risch, N. <strong>Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.</strong> Am. J. Med. Genet. 129A: 162-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316959</a>] [<a href="https://doi.org/10.1002/ajmg.a.30232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15316959">Ekstein et al. (2004)</a> tested 20,719 Ashkenazi Jewish subjects for the R83C mutation and identified 290 carriers, giving a carrier frequency of 0.014. The authors noted that this carrier frequency translates into a predicted disease prevalence of 1 in 20,000, 5 times higher than that for the general Caucasian population, confirming a founder effect and elevated frequency of type Ia glycogen storage disease in the Ashkenazi population. They also tested 4,290 Ashkenazi subjects for the Q347X (<a href="#0004">613742.0004</a>) mutation and found no carriers. Of 30 Ashkenazi Jewish patients with type Ia glycogen storage disease, all were homozygous for the R83C mutation. <a href="#5" class="mim-tip-reference" title="Ekstein, J., Rubin, B. Y., Anderson, S. L., Weinstein, D. A., Bach, G., Abeliovich, D., Webb, M., Risch, N. <strong>Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.</strong> Am. J. Med. Genet. 129A: 162-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316959</a>] [<a href="https://doi.org/10.1002/ajmg.a.30232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15316959">Ekstein et al. (2004)</a> concluded that R83C is the only prevalent mutation for this disease in the Ashkenazi population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15316959" 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> rs104894563 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894563;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/rs104894563?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=rs104894563" 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=rs104894563" 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=RCV000012779 OR RCV000725438" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012779, RCV000725438" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012779...</a>
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<p>For discussion of the arg295-to-cys (R295C) mutation in the GSD1A gene that was found in compound heterozygous state in a patient with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>) by <a href="#11" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. <strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong> Science 262: 580-583, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8211187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8211187</a>] [<a href="https://doi.org/10.1126/science.8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8211187">Lei et al. (1993)</a>, see <a href="#0002">613742.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" 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> rs80356487 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356487;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/rs80356487?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=rs80356487" 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=rs80356487" 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=RCV000012780 OR RCV000199372 OR RCV001027894 OR RCV003398491 OR RCV004018616" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012780, RCV000199372, RCV001027894, RCV003398491, RCV004018616" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012780...</a>
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<p>In a patient with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#10" class="mim-tip-reference" title="Lei, K.-J., Pan, C.-J., Shelly, L. L., Liu, J.-L., Chou, J. Y. <strong>Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong> J. Clin. Invest. 93: 1994-1999, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8182131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8182131</a>] [<a href="https://doi.org/10.1172/JCI117192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8182131">Lei et al. (1994)</a> demonstrated compound heterozygosity for an arg83-to-cys mutation (<a href="#0002">613742.0002</a>) in exon 2 and a gln347-to-ter mutation in exon 5. The latter mutation was detected in homozygous form in 2 sibs of an unrelated family. The predicted Q347X mutant G6Pase is a truncated protein of 346 amino acids, 11 amino acids shorter than the wildtype G6Pase. Site-directed mutagenesis and transient expression assays demonstrated that the mutant protein is devoid of G6Pase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8182131" 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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G6PC, IVS4, G-T, +86
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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> rs80356484 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356484;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/rs80356484?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=rs80356484" 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=rs80356484" 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=RCV000012783 OR RCV000723833" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012783, RCV000723833" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012783...</a>
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<p>In a 26-year-old man with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>) and in 9 other Japanese patients from 8 unrelated families, <a href="#6" class="mim-tip-reference" title="Kajihara, S., Matsuhashi, S., Yamamoto, K., Kido, K., Tsuji, K., Tanae, A., Fujiyama, S., Itoh, T., Tanigawa, K., Uchida, M., Setoguchi, Y., Motomura, M., Mizuta, T., Sakai, T. <strong>Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.</strong> Am. J. Hum. Genet. 57: 549-555, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668282</a>]" pmid="7668282">Kajihara et al. (1995)</a> identified a splicing mutation in the G6PC gene. The first patient was the progeny of first-cousin parents and had a history of hepatomegaly and hypoglycemia since childhood. The diagnosis of GSD Ia was based on the findings of hypoglycemia, hypertriglyceridemia, hyperuricemia and liver biopsy abnormalities. Residual G6Pase activity in the liver was 18% of normal in both fresh and previously frozen liver biopsy specimens. A younger brother was also affected. The cDNA prepared from the patient's liver had a deletion of 91 nucleotides with no normal-sized cDNA. The mutation resulted in a G6Pase polypeptide 146 amino acids shorter at the carboxy-terminal portion than the normal gene product of 357 residues. It was thought that the 18% of normal activity reflected nonspecific phosphatase activity since the G6Pase activity was low or not detectable in several unrelated GSD Ia patients homozygous for this mutation. Analysis of mutant genomic DNA demonstrated a G-to-T transversion at nucleotide 727 of their G6PC sequence. Although the patient's splice site in intron 4 and exon 5 had a normal consensus sequence, normal splicing did not occur. It is thought that the single base substitution, located far from the splice junction, altered the splice site. <a href="#6" class="mim-tip-reference" title="Kajihara, S., Matsuhashi, S., Yamamoto, K., Kido, K., Tsuji, K., Tanae, A., Fujiyama, S., Itoh, T., Tanigawa, K., Uchida, M., Setoguchi, Y., Motomura, M., Mizuta, T., Sakai, T. <strong>Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.</strong> Am. J. Hum. Genet. 57: 549-555, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668282</a>]" pmid="7668282">Kajihara et al. (1995)</a> cited data indicating that 11% of aberrant splice mutations represent the creation of new splice sites with no alteration in the authentic splice site sequences. <a href="#12" class="mim-tip-reference" title="Nakai, K., Sakamoto, H. <strong>Construction of a novel database containing aberrant splicing mutations of mammalian genes.</strong> Gene 141: 171-177, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8163185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8163185</a>] [<a href="https://doi.org/10.1016/0378-1119(94)90567-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8163185">Nakai and Sakamoto (1994)</a> found that new 5-prime and 3-prime sites were created only in the upstream region of the authentic 5-prime and 3-prime splice sites. However, this characteristically Japanese GSD Ia mutation is an exception; a new 3-prime site occurred in the downstream region of a normal splice site. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7668282+8163185" 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="#1" class="mim-tip-reference" title="Akanuma, J., Nishigaki, T., Fujii, K., Matsubara, Y., Inui, K., Takahashi, K., Kure, S., Suzuki, Y., Ohura, T., Miyabayashi, S., Ogawa, E., Iinuma, K., Okada, S., Narisawa, K. <strong>Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.</strong> Am. J. Med. Genet. 91: 107-112, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10748407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10748407</a>]" pmid="10748407">Akanuma et al. (2000)</a> found that the most prevalent mutation in a study of 51 unrelated Japanese patients with GSD Ia was 727G-T, accounting for 88 of 102 mutant alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10748407" 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> rs104894565 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894565;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/rs104894565?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=rs104894565" 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=rs104894565" 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=RCV000012784 OR RCV000507730 OR RCV002243637" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012784, RCV000507730, RCV002243637" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012784...</a>
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<p>In 4 unrelated French patients with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#4" class="mim-tip-reference" title="Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I. <strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong> J. Med. Genet. 33: 358-360, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733042</a>] [<a href="https://doi.org/10.1136/jmg.33.5.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733042">Chevalier-Porst et al. (1996)</a> found compound heterozygosity for a D38V missense mutation in the G6PC gene. This resulted from an A-to-T transversion of nucleotide 192 in exon 1. The mutation was predicted to change an acidic amino acid (aspartic acid) to a nonpolar hydrophobic amino acid (valine) in the middle of the first predicted transmembrane spanning domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" 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">rs104894566 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894566;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894566" 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=rs104894566" 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=RCV000012781" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012781" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012781</a>
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<p>In a French patient with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#4" class="mim-tip-reference" title="Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I. <strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong> J. Med. Genet. 33: 358-360, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733042</a>] [<a href="https://doi.org/10.1136/jmg.33.5.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733042">Chevalier-Porst et al. (1996)</a> found compound heterozygosity for a W77R missense mutation in the G6PC gene. The mutation changed a nonpolar hydrophobic amino acid (tryptophan) to a basic one (arginine). The amino acid substitution resulted from a T-to-C transition of nucleotide 308 in exon 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" 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>.0008 GLYCOGEN STORAGE DISEASE Ia</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> rs587776757 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776757;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/rs587776757?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=rs587776757" 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=rs587776757" 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=RCV000012782" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012782" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012782</a>
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<p>In a French patient with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#4" class="mim-tip-reference" title="Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I. <strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong> J. Med. Genet. 33: 358-360, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733042</a>] [<a href="https://doi.org/10.1136/jmg.33.5.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733042">Chevalier-Porst et al. (1996)</a> found an A-to-G transition at position +4 of the 5-prime donor splice site of intron 1 of the G6PC gene. The patient was compound heterozygous for this mutation and for the G188R mutation (<a href="#0012">613742.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" 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>.0009 GLYCOGEN STORAGE DISEASE Ia</strong>
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G6PC, GLU110LYS
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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> rs104894567 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894567;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/rs104894567?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=rs104894567" 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=rs104894567" 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=RCV000012785 OR RCV004700222" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012785, RCV004700222" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012785...</a>
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<p>In a French patient with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#4" class="mim-tip-reference" title="Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I. <strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong> J. Med. Genet. 33: 358-360, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733042</a>] [<a href="https://doi.org/10.1136/jmg.33.5.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733042">Chevalier-Porst et al. (1996)</a> found a G-to-A transition at nucleotide 407 in exon 2 of the G6PC gene, resulting in an E110K missense mutation in the G6PC gene. The mutation changed an acidic amino acid (glutamic acid) to a basic amino acid (lysine). The mutation was present in compound heterozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" 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>.0010 GLYCOGEN STORAGE DISEASE Ia</strong>
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G6PC, ALA124THR
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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> rs104894568 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894568;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/rs104894568?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=rs104894568" 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=rs104894568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012786" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012786" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012786</a>
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<p>In a French patient with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#4" class="mim-tip-reference" title="Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I. <strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong> J. Med. Genet. 33: 358-360, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733042</a>] [<a href="https://doi.org/10.1136/jmg.33.5.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733042">Chevalier-Porst et al. (1996)</a> identified a G-to-A transition at nucleotide 449 in exon 3 of the G6PC gene, which changed a nonpolar amino acid (alanine-124) to a polar one (threonine). This mutation, inherited from the mother, was associated with the Q347X mutation (<a href="#0004">613742.0004</a>) in 2 sibs with GSD Ia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 GLYCOGEN STORAGE DISEASE Ia</strong>
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G6PC, GLY184GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894569 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894569;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894569" 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=rs104894569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012787" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012787" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012787</a>
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<p>In a French patient with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#4" class="mim-tip-reference" title="Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I. <strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong> J. Med. Genet. 33: 358-360, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733042</a>] [<a href="https://doi.org/10.1136/jmg.33.5.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733042">Chevalier-Porst et al. (1996)</a> found a G-to-A transition at nucleotide 630 of the G6PC gene, changing a nonpolar hydrophobic amino acid (glycine-184) to an acidic one (glutamic acid). The G184E mutation is located in the putative cytoplasmic domain of the enzyme. The mutation was present in homozygous state in a family with no known consanguinity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 GLYCOGEN STORAGE DISEASE Ia</strong>
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</span>
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G6PC, GLY188ARG
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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> rs80356482 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356482;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/rs80356482?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=rs80356482" 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=rs80356482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012788 OR RCV001723560" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012788, RCV001723560" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012788...</a>
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</span>
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<span class="mim-text-font">
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<p>In 3 unrelated French patients with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#4" class="mim-tip-reference" title="Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I. <strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong> J. Med. Genet. 33: 358-360, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733042</a>] [<a href="https://doi.org/10.1136/jmg.33.5.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733042">Chevalier-Porst et al. (1996)</a> found compound heterozygosity for a G-to-C transversion at nucleotide 641 of the G6PC gene, resulting in change of a nonpolar hydrophobic amino acid (glycine-188) to a basic one (arginine). This mutation, like G184E (<a href="#0011">613742.0011</a>), is located in the putative cytoplasmic domain of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" 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="#17" class="mim-tip-reference" title="Weston, B. W., Lin, J.-L., Muenzer, J., Cameron, H. S., Arnold, R. R., Seydewitz, H. H., Mayatepek, E., Van Schaftingen, E., Veiga-da-Cunha, M., Matern, D., Chen, Y. T. <strong>Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.</strong> Pediat. Res. 48: 329-334, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10960498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10960498</a>] [<a href="https://doi.org/10.1203/00006450-200009000-00011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10960498">Weston et al. (2000)</a> identified a 5-month-old girl with hypoglycemia, hepatomegaly, and lactic acidemia who was diagnosed with GSD Ia. She also developed neutropenia, neutrophil dysfunction, and recurrent infections characteristic of GSD Ib, but was found to be homozygous for the G188R mutation of the G6PC gene. No mutations in the G6PC translocase gene were identified. <a href="#17" class="mim-tip-reference" title="Weston, B. W., Lin, J.-L., Muenzer, J., Cameron, H. S., Arnold, R. R., Seydewitz, H. H., Mayatepek, E., Van Schaftingen, E., Veiga-da-Cunha, M., Matern, D., Chen, Y. T. <strong>Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.</strong> Pediat. Res. 48: 329-334, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10960498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10960498</a>] [<a href="https://doi.org/10.1203/00006450-200009000-00011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10960498">Weston et al. (2000)</a> subsequently identified a sib of this proband and 2 unrelated patients with similar genotype-phenotype characteristics. They concluded that the unusual association of neutrophil abnormalities in patients with homozygous G188R mutations in the G6PC gene supports the modified translocase/catalytic unit model. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10960498" 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>.0013 GLYCOGEN STORAGE DISEASE Ia</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> rs1801176 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1801176;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/rs1801176?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=rs1801176" 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=rs1801176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <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> rs387906505 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906505;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/rs387906505?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=rs387906505" 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=rs387906505" 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=RCV000012789" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012789" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012789</a>
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<p>In 2 sibs with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#8" class="mim-tip-reference" title="Lee, W.-J., Lee, H.-M., Chi, C.-S., Shu, S.-G., Lin, L.-Y., Lin, W.-H. <strong>Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.</strong> Clin. Genet. 50: 206-211, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9001800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9001800</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02627.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9001800">Lee et al. (1996)</a> found compound heterozygosity for an R83C substitution in exon 2 (<a href="#0002">613742.0002</a>) and an ile341-to-asp substitution in exon 5 of the G6PC gene. The nucleotide substitutions were a G-to-A transition at base position 327 in exon 2 and a T-to-A transversion at base position 1101 in exon 5. The father was heterozygous for the exon 2 mutation, and the mother was heterozygous for the exon 5 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9001800" 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>.0014 GLYCOGEN STORAGE DISEASE Ia</strong>
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G6PC, VAL166GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894571 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894571;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894571" 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=rs104894571" 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=RCV000012790" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012790" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012790</a>
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<p>In 2 Muslim Arab patients in Israel with glycogen storage disease Ia (GSD1A; <a href="/entry/232200">232200</a>), <a href="#13" class="mim-tip-reference" title="Parvari, R., Lei, K.-J., Bashan, N., Hershkovitz, E., Korman, S. H., Barash, V., Lerman-Sagie, T., Mandel, H., Chou, J. Y., Moses, S. W. <strong>Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.</strong> Am. J. Med. Genet. 72: 286-290, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9332655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9332655</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9332655">Parvari et al. (1997)</a> identified a homozygous 576T-G transversion in the G6PC gene, resulting in a val166-to-gly (V166G) missense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332655" 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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<a id="Akanuma2000" class="mim-anchor"></a>
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Akanuma, J., Nishigaki, T., Fujii, K., Matsubara, Y., Inui, K., Takahashi, K., Kure, S., Suzuki, Y., Ohura, T., Miyabayashi, S., Ogawa, E., Iinuma, K., Okada, S., Narisawa, K.
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<strong>Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.</strong>
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Am. J. Med. Genet. 91: 107-112, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10748407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10748407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10748407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brody, L. C., Abel, K. J., Castilla, L. H., Couch, F. J., McKinley, D. R., Yin, G.-Y., Ho, P. P., Merajver, S., Chandrasekharappa, S. C., Xu, J., Cole, J. L., Struewing, J. P., Valdes, J. M., Collins, F. S., Weber, B. L.
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<strong>Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.</strong>
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Genomics 25: 238-247, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7774924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7774924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7774924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(95)80131-5" target="_blank">Full Text</a>]
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Burchell, A., Waddell, I. D.
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<strong>Diagnosis of a novel glycogen storage disease: type 1aSP.</strong>
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J. Inherit. Metab. Dis. 13: 247-249, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2172641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2172641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2172641" 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/BF01799362" target="_blank">Full Text</a>]
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Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I.
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<strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong>
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J. Med. Genet. 33: 358-360, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733042</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" 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/10.1136/jmg.33.5.358" target="_blank">Full Text</a>]
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Ekstein, J., Rubin, B. Y., Anderson, S. L., Weinstein, D. A., Bach, G., Abeliovich, D., Webb, M., Risch, N.
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<strong>Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.</strong>
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Am. J. Med. Genet. 129A: 162-164, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316959</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15316959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30232" target="_blank">Full Text</a>]
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Kajihara, S., Matsuhashi, S., Yamamoto, K., Kido, K., Tsuji, K., Tanae, A., Fujiyama, S., Itoh, T., Tanigawa, K., Uchida, M., Setoguchi, Y., Motomura, M., Mizuta, T., Sakai, T.
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<strong>Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.</strong>
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Am. J. Hum. Genet. 57: 549-555, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
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Ki, C.-S., Han, S.-H., Kim, H.-J., Lee, S.-G., Kim, E.-J., Kim, J.-W., Choe, Y. H., Seo, J. K., Chang, Y. J., Park, J. Y.
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<strong>Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.</strong>
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Clin. Genet. 65: 487-489, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15151508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15151508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15151508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2004.00260.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Lee1996" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Lee, W.-J., Lee, H.-M., Chi, C.-S., Shu, S.-G., Lin, L.-Y., Lin, W.-H.
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<strong>Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.</strong>
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Clin. Genet. 50: 206-211, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9001800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9001800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9001800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02627.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Lei1995" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Lei, K.-J., Chen, Y.-T., Chen, H., Wong, L.-J. C., Liu, J.-L., McConkie-Rosell, A., Van Hove, J. L. K., Ou, H. C.-Y., Yeh, N. J., Pan, L. Y., Chou, J. Y.
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<strong>Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.</strong>
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Am. J. Hum. Genet. 57: 766-771, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Lei1994" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
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|
Lei, K.-J., Pan, C.-J., Shelly, L. L., Liu, J.-L., Chou, J. Y.
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<strong>Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong>
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J. Clin. Invest. 93: 1994-1999, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8182131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8182131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8182131" 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/10.1172/JCI117192" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Lei1993" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y.
|
|
<strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong>
|
|
Science 262: 580-583, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8211187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8211187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" 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/10.1126/science.8211187" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Nakai1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakai, K., Sakamoto, H.
|
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<strong>Construction of a novel database containing aberrant splicing mutations of mammalian genes.</strong>
|
|
Gene 141: 171-177, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8163185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8163185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8163185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0378-1119(94)90567-3" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Parvari1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Parvari, R., Lei, K.-J., Bashan, N., Hershkovitz, E., Korman, S. H., Barash, V., Lerman-Sagie, T., Mandel, H., Chou, J. Y., Moses, S. W.
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<strong>Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.</strong>
|
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Am. J. Med. Genet. 72: 286-290, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9332655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9332655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Qu1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Qu, Y., Abdenur, J. E., Eng, C. M., Desnick, R. J.
|
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<strong>Molecular prenatal diagnosis of glycogen storage disease type Ia.</strong>
|
|
Prenatal Diag. 16: 333-336, 1996.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8734807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8734807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8734807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Shelly1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shelly, L. L., Lei, K.-J., Pan, C.-J., Sakata, S. F., Ruppert, S., Schutz, G., Chou, J. Y.
|
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<strong>Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong>
|
|
J. Biol. Chem. 268: 21482-21485, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8407995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8407995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8407995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Stroppiano1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stroppiano, M., Regis, S., DiRocco, M., Caroli, F., Gandullia, P., Gatti, R.
|
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<strong>Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.</strong>
|
|
J. Inherit. Metab. Dis. 22: 43-49, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10070617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10070617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10070617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1023/a:1005495131118" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Weston2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weston, B. W., Lin, J.-L., Muenzer, J., Cameron, H. S., Arnold, R. R., Seydewitz, H. H., Mayatepek, E., Van Schaftingen, E., Veiga-da-Cunha, M., Matern, D., Chen, Y. T.
|
|
<strong>Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.</strong>
|
|
Pediat. Res. 48: 329-334, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10960498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10960498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10960498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1203/00006450-200009000-00011" target="_blank">Full Text</a>]
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 2/14/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/10/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/09/2018<br>carol : 01/08/2018<br>carol : 04/29/2014<br>mcolton : 4/25/2014<br>mcolton : 4/25/2014<br>alopez : 4/7/2011<br>terry : 2/15/2011<br>carol : 2/15/2011
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</span>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 613742
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GLUCOSE-6-PHOSPHATASE, CATALYTIC, 1; G6PC1<br />
|
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G6PT, FORMERLY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: G6PC1</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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|
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<strong>SNOMEDCT:</strong> 444707001;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 17q21.31
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 17:42,900,799-42,914,438 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
|
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</div>
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<div>
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<br />
|
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</div>
|
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<div>
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<h4>
|
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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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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
17q21.31
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease Ia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
232200
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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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>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Glucose-6-phosphatase (G6PC; EC 3.1.3.9), the key enzyme in the homeostasis regulation of blood glucose concentrations, catalyzes the terminal step in gluconeogenesis and glycogenolysis (summary by Lei et al., 1993). </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>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>Lei et al. (1993) cloned human G6PC from a liver cDNA library. G6PC encodes a predicted 357-amino acid protein with an endoplasmic reticulum (ER) retention signal and 6 putative membrane-spanning segments. The expressed protein is indistinguishable from human microsomal G6Pase. Lei et al. (1993) stated that the gene had previously eluded molecular characterization primarily because of its tight association with the ER and nuclear membranes. </p><p>Shelly et al. (1993) isolated cDNAs encoding G6Pase by taking advantage of an albino deletion mutant mouse that is known to express markedly reduced levels of G6Pase activity. The primary defect of this mutant mouse is a loss of the fumarylacetoacetate hydrolase gene (FAH; 613871) located near the albino locus on chromosome 7. Fumarylacetoacetate hydrolase (or fumarylacetoacetase) is the final enzyme in the tyrosine degradation pathway, and a deficiency of this enzyme leads to the accumulation of toxic tyrosine metabolites, resulting in reduced expression of a group of liver-specific proteins, including G6Pase. Newborn homozygous deletion mice develop hypoglycemia shortly after birth, correlating with undetectable levels of G6Pase activity. Shelly et al. (1993) isolated a full-length cDNA encoding murine liver microsomal G6Pase by screening a normal mouse liver cDNA library differentially with probes representing mRNA populations from the normal and the albino deletion mutant mouse. </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>Lei et al. (1993) determined that the G6PC gene contains 5 exons and spans approximately 12.5 kb. </p><p>Shelly et al. (1993) showed that the mouse G6Pase transcription unit spans approximately 10 kb and contains 5 exons. </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>By analysis of somatic cell hybrids, Lei et al. (1994) mapped the G6PC gene to chromosome 17. </p><p>In the course of constructing a transcription map of approximately 600 kb of genomic DNA surrounding the BRCA1 gene (113705), Brody et al. (1995) identified the G6PC gene, thus regionalizing its assignment to 17q21. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>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>In 2 patients with glycogen storage disease Ia (GSD1A; 232200), Lei et al. (1993) identified homozygous and compound heterozygous mutations, respectively, in the G6PC gene (613742.0001-613742.0003). </p><p>Lei et al. (1995) used SSCP analysis and DNA sequencing to characterize the G6PC gene of 70 unrelated patients with enzymatically confirmed diagnosis of type Ia GSD and detected mutations in all except 17 alleles (88%). They uncovered 16 mutations that were shown by expression to abolish or greatly reduce G6Pase activity and that, therefore, were responsible for the clinical disorder. R83C (613742.0002) and Q347X (613742.0004) were the most prevalent mutations found in Caucasians; 130X (613742.0001) and R83C were most prevalent in Hispanics; R83H was most prevalent in Chinese. The Q347X mutation was identified only in Caucasians, and the 130X mutation was identified only in Hispanic patients. </p><p>Kajihara et al. (1995) identified a splice mutation in exon 5 (727G-T) of the G6PC cDNA from the liver of a Japanese patient with GSD type Ia (613742.0005). Another 8 unrelated Japanese families with a total of 9 affected individuals were found to have the same mutation, thus representing 91% of patients and carriers of GSD Ia in Japan. </p><p>Chevalier-Porst et al. (1996) sequenced both alleles of 24 French GSD type Ia patients; 14 different mutations were found, allowing the identification of complete genotypes for all the patients. These included 9 new mutations. Five mutations, Q347X, R83C, D38V (613742.0006), G188R (613742.0012), and 158Cdel, accounted for 75% of the mutated alleles. </p><p>Parvari et al. (1997) reported the biochemical and clinical characteristics as well as mutation analyses of 12 Israeli GSD Ia patients of different families, who represent most of the GSD Ia patients in Israel. All 9 Jewish patients, as well as a Muslim Arab patient, were found to have the R83C mutation (613742.0002). Two Muslim Arab patients had the val166-to-gly (V166G) mutation (613742.0014), which had not been found in other populations. </p><p>Akanuma et al. (2000) identified G6PC mutations in all alleles from 51 unrelated Japanese patients with GSD Ia. A total of 7 mutations were identified, including 3 novel mutations. The most prevalent mutation, 727G-T, accounting for 88 of 102 mutant alleles, creates an aberrant 3-prime splice site within exon 5. The authors demonstrated that ectopically transcribed G6Pase mRNA can be detected in lymphoblastoid cells and may be used for the characterization of mutations that affect mRNA splicing. They concluded that noninvasive molecular diagnosis may ultimately replace the conventional method of enzymatic diagnosis that requires liver biopsy in Japanese patients. </p><p>Stroppiano et al. (1999) analyzed the G6Pase gene in 53 unrelated Italian patients and identified 88 mutant alleles (82.6%) with 18 (17.4%) remaining unidentified. The most prevalent mutation was R83C (46.2%), followed by Q347X (20.7%); 3 other mutations (R295C, D38V, and G270V) accounted for 5.6% of disease alleles. The authors suggested that noninvasive screening could be used in Italian patients clinically suspected of having GSD Ia, particularly in those from Sicily, where the R83C mutation was present in 80% of mutant alleles. In all of 13 unrelated Korean patients with GSD Ia, Ki et al. (2004) identified mutant alleles of the G6PC gene. Three known mutations and 2 novel mutations were identified. The most frequent mutant allele was 727G-T, present in 21 of 26 alleles (81%), which was slightly lower than that in Japanese, where it was present in 86 alleles (92%), but much higher than that in Taiwan Chinese (present in 44.4% of alleles). </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>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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|
</span>
|
|
<strong>14 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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G6PC, 2-BP INS, 459TA
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<br />
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|
|
SNP: rs80356488,
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|
|
ClinVar: RCV000012777, RCV000417779
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with glycogen storage disease Ia (GSD1A; 232200), Lei et al. (1993) found a 2-bp insertion at nucleotide 459 (TAins459) in exon 3 of the G6PC gene. The insertion caused a frameshift with generation of a stop codon at nucleotides 467-469. The predicted gene product was a severely truncated protein of 129 amino acids. The patient was homozygous for the TA insertion and the mother, the only parent available, was heterozygous. Lei et al. (1995) referred to this mutation as 130X referring to the number of the stop codon that was generated by the frameshift. The 130X mutation had been identified only in Hispanic patients. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
G6PC, ARG83CYS
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<br />
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|
|
SNP: rs1801175,
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gnomAD: rs1801175,
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|
|
ClinVar: RCV000012778, RCV000360229, RCV000424594, RCV000626623, RCV003987317
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Lei et al. (1993) concluded that a patient with type Ia glycogen storage disease (GSD1A; 232200) was a compound heterozygote for 2 different G6PC mutations: arg83-to-cys (R83C) and arg295-to-cys (R295C; 613742.0003), located in exons 2 and 5, respectively. The exon 5 mutation came from the father and the exon 2 mutation from the mother. Both mutations were thought to involve a CpG doublet. Lei et al. (1994) demonstrated that the R83C mutant has no detectable phosphohydrolase activity. </p><p>In a patient originally reported by Burchell and Waddell (1990) as having a novel form of type I glycogen storage disease due to a defect in the 21-kD stabilizing protein SP, Lei et al. (1995) demonstrated that in fact there was an R83C mutation in exon 2 of the G6PC gene. They found the same mutation in both homozygous and heterozygous form in patients with standard GSD type Ia. </p><p>Qu et al. (1996) performed prenatal diagnosis by chorionic villus sampling in an Ashkenazi Jewish family in which a previous child was homoallelic and both parents were heterozygous for the R83C mutation. Molecular analysis showed that the fetus was not affected. </p><p>Parvari et al. (1997) found that the R83C mutation was present in all Ashkenazi Jewish patients studied in Israel, suggesting that DNA-based diagnosis may be used as an initial diagnostic step in this population, thus avoiding liver biopsy. </p><p>Ekstein et al. (2004) tested 20,719 Ashkenazi Jewish subjects for the R83C mutation and identified 290 carriers, giving a carrier frequency of 0.014. The authors noted that this carrier frequency translates into a predicted disease prevalence of 1 in 20,000, 5 times higher than that for the general Caucasian population, confirming a founder effect and elevated frequency of type Ia glycogen storage disease in the Ashkenazi population. They also tested 4,290 Ashkenazi subjects for the Q347X (613742.0004) mutation and found no carriers. Of 30 Ashkenazi Jewish patients with type Ia glycogen storage disease, all were homozygous for the R83C mutation. Ekstein et al. (2004) concluded that R83C is the only prevalent mutation for this disease in the Ashkenazi population. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
G6PC, ARG295CYS
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|
<br />
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|
|
SNP: rs104894563,
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|
|
gnomAD: rs104894563,
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|
|
ClinVar: RCV000012779, RCV000725438
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg295-to-cys (R295C) mutation in the GSD1A gene that was found in compound heterozygous state in a patient with glycogen storage disease Ia (GSD1A; 232200) by Lei et al. (1993), see 613742.0002. </p>
|
|
</span>
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</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
G6PC, GLN347TER
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|
|
<br />
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|
|
|
SNP: rs80356487,
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|
|
gnomAD: rs80356487,
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|
|
|
|
|
ClinVar: RCV000012780, RCV000199372, RCV001027894, RCV003398491, RCV004018616
|
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|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with glycogen storage disease Ia (GSD1A; 232200), Lei et al. (1994) demonstrated compound heterozygosity for an arg83-to-cys mutation (613742.0002) in exon 2 and a gln347-to-ter mutation in exon 5. The latter mutation was detected in homozygous form in 2 sibs of an unrelated family. The predicted Q347X mutant G6Pase is a truncated protein of 346 amino acids, 11 amino acids shorter than the wildtype G6Pase. Site-directed mutagenesis and transient expression assays demonstrated that the mutant protein is devoid of G6Pase activity. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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|
</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
G6PC, IVS4, G-T, +86
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<br />
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|
|
SNP: rs80356484,
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|
|
|
gnomAD: rs80356484,
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|
|
|
|
|
ClinVar: RCV000012783, RCV000723833
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 26-year-old man with glycogen storage disease Ia (GSD1A; 232200) and in 9 other Japanese patients from 8 unrelated families, Kajihara et al. (1995) identified a splicing mutation in the G6PC gene. The first patient was the progeny of first-cousin parents and had a history of hepatomegaly and hypoglycemia since childhood. The diagnosis of GSD Ia was based on the findings of hypoglycemia, hypertriglyceridemia, hyperuricemia and liver biopsy abnormalities. Residual G6Pase activity in the liver was 18% of normal in both fresh and previously frozen liver biopsy specimens. A younger brother was also affected. The cDNA prepared from the patient's liver had a deletion of 91 nucleotides with no normal-sized cDNA. The mutation resulted in a G6Pase polypeptide 146 amino acids shorter at the carboxy-terminal portion than the normal gene product of 357 residues. It was thought that the 18% of normal activity reflected nonspecific phosphatase activity since the G6Pase activity was low or not detectable in several unrelated GSD Ia patients homozygous for this mutation. Analysis of mutant genomic DNA demonstrated a G-to-T transversion at nucleotide 727 of their G6PC sequence. Although the patient's splice site in intron 4 and exon 5 had a normal consensus sequence, normal splicing did not occur. It is thought that the single base substitution, located far from the splice junction, altered the splice site. Kajihara et al. (1995) cited data indicating that 11% of aberrant splice mutations represent the creation of new splice sites with no alteration in the authentic splice site sequences. Nakai and Sakamoto (1994) found that new 5-prime and 3-prime sites were created only in the upstream region of the authentic 5-prime and 3-prime splice sites. However, this characteristically Japanese GSD Ia mutation is an exception; a new 3-prime site occurred in the downstream region of a normal splice site. </p><p>Akanuma et al. (2000) found that the most prevalent mutation in a study of 51 unrelated Japanese patients with GSD Ia was 727G-T, accounting for 88 of 102 mutant alleles. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
G6PC, ASP38VAL
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|
|
|
<br />
|
|
|
|
SNP: rs104894565,
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|
|
|
gnomAD: rs104894565,
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|
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|
|
|
ClinVar: RCV000012784, RCV000507730, RCV002243637
|
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|
|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated French patients with glycogen storage disease Ia (GSD1A; 232200), Chevalier-Porst et al. (1996) found compound heterozygosity for a D38V missense mutation in the G6PC gene. This resulted from an A-to-T transversion of nucleotide 192 in exon 1. The mutation was predicted to change an acidic amino acid (aspartic acid) to a nonpolar hydrophobic amino acid (valine) in the middle of the first predicted transmembrane spanning domain. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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|
</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
G6PC, TRP77ARG
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|
|
|
|
<br />
|
|
|
|
SNP: rs104894566,
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|
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|
|
|
|
|
ClinVar: RCV000012781
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|
|
|
|
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</span>
|
|
</div>
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French patient with glycogen storage disease Ia (GSD1A; 232200), Chevalier-Porst et al. (1996) found compound heterozygosity for a W77R missense mutation in the G6PC gene. The mutation changed a nonpolar hydrophobic amino acid (tryptophan) to a basic one (arginine). The amino acid substitution resulted from a T-to-C transition of nucleotide 308 in exon 1. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</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>.0008 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
G6PC, IVS1DS, A-G, +4
|
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<br />
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|
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SNP: rs587776757,
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gnomAD: rs587776757,
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ClinVar: RCV000012782
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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 French patient with glycogen storage disease Ia (GSD1A; 232200), Chevalier-Porst et al. (1996) found an A-to-G transition at position +4 of the 5-prime donor splice site of intron 1 of the G6PC gene. The patient was compound heterozygous for this mutation and for the G188R mutation (613742.0012). </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>.0009 GLYCOGEN STORAGE DISEASE Ia</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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G6PC, GLU110LYS
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<br />
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SNP: rs104894567,
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gnomAD: rs104894567,
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ClinVar: RCV000012785, RCV004700222
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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 French patient with glycogen storage disease Ia (GSD1A; 232200), Chevalier-Porst et al. (1996) found a G-to-A transition at nucleotide 407 in exon 2 of the G6PC gene, resulting in an E110K missense mutation in the G6PC gene. The mutation changed an acidic amino acid (glutamic acid) to a basic amino acid (lysine). The mutation was present in compound heterozygous state. </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>.0010 GLYCOGEN STORAGE DISEASE Ia</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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G6PC, ALA124THR
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<br />
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SNP: rs104894568,
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gnomAD: rs104894568,
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ClinVar: RCV000012786
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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 French patient with glycogen storage disease Ia (GSD1A; 232200), Chevalier-Porst et al. (1996) identified a G-to-A transition at nucleotide 449 in exon 3 of the G6PC gene, which changed a nonpolar amino acid (alanine-124) to a polar one (threonine). This mutation, inherited from the mother, was associated with the Q347X mutation (613742.0004) in 2 sibs with GSD Ia. </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>.0011 GLYCOGEN STORAGE DISEASE Ia</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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G6PC, GLY184GLU
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<br />
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SNP: rs104894569,
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ClinVar: RCV000012787
|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a French patient with glycogen storage disease Ia (GSD1A; 232200), Chevalier-Porst et al. (1996) found a G-to-A transition at nucleotide 630 of the G6PC gene, changing a nonpolar hydrophobic amino acid (glycine-184) to an acidic one (glutamic acid). The G184E mutation is located in the putative cytoplasmic domain of the enzyme. The mutation was present in homozygous state in a family with no known consanguinity. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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G6PC, GLY188ARG
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<br />
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SNP: rs80356482,
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gnomAD: rs80356482,
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|
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ClinVar: RCV000012788, RCV001723560
|
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated French patients with glycogen storage disease Ia (GSD1A; 232200), Chevalier-Porst et al. (1996) found compound heterozygosity for a G-to-C transversion at nucleotide 641 of the G6PC gene, resulting in change of a nonpolar hydrophobic amino acid (glycine-188) to a basic one (arginine). This mutation, like G184E (613742.0011), is located in the putative cytoplasmic domain of the enzyme. </p><p>Weston et al. (2000) identified a 5-month-old girl with hypoglycemia, hepatomegaly, and lactic acidemia who was diagnosed with GSD Ia. She also developed neutropenia, neutrophil dysfunction, and recurrent infections characteristic of GSD Ib, but was found to be homozygous for the G188R mutation of the G6PC gene. No mutations in the G6PC translocase gene were identified. Weston et al. (2000) subsequently identified a sib of this proband and 2 unrelated patients with similar genotype-phenotype characteristics. They concluded that the unusual association of neutrophil abnormalities in patients with homozygous G188R mutations in the G6PC gene supports the modified translocase/catalytic unit model. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
G6PC, ILE341ASP
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<br />
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|
|
SNP: rs1801176, rs387906505,
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|
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|
|
gnomAD: rs1801176, rs387906505,
|
|
|
|
|
|
ClinVar: RCV000012789
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with glycogen storage disease Ia (GSD1A; 232200), Lee et al. (1996) found compound heterozygosity for an R83C substitution in exon 2 (613742.0002) and an ile341-to-asp substitution in exon 5 of the G6PC gene. The nucleotide substitutions were a G-to-A transition at base position 327 in exon 2 and a T-to-A transversion at base position 1101 in exon 5. The father was heterozygous for the exon 2 mutation, and the mother was heterozygous for the exon 5 mutation. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 GLYCOGEN STORAGE DISEASE Ia</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
G6PC, VAL166GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894571,
|
|
|
|
|
|
|
|
ClinVar: RCV000012790
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Muslim Arab patients in Israel with glycogen storage disease Ia (GSD1A; 232200), Parvari et al. (1997) identified a homozygous 576T-G transversion in the G6PC gene, resulting in a val166-to-gly (V166G) missense mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Akanuma, J., Nishigaki, T., Fujii, K., Matsubara, Y., Inui, K., Takahashi, K., Kure, S., Suzuki, Y., Ohura, T., Miyabayashi, S., Ogawa, E., Iinuma, K., Okada, S., Narisawa, K.
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|
<strong>Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.</strong>
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Am. J. Med. Genet. 91: 107-112, 2000.
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[PubMed: 10748407]
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<li>
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<p class="mim-text-font">
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Brody, L. C., Abel, K. J., Castilla, L. H., Couch, F. J., McKinley, D. R., Yin, G.-Y., Ho, P. P., Merajver, S., Chandrasekharappa, S. C., Xu, J., Cole, J. L., Struewing, J. P., Valdes, J. M., Collins, F. S., Weber, B. L.
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<strong>Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.</strong>
|
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Genomics 25: 238-247, 1995.
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[PubMed: 7774924]
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[Full Text: https://doi.org/10.1016/0888-7543(95)80131-5]
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<p class="mim-text-font">
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Burchell, A., Waddell, I. D.
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<strong>Diagnosis of a novel glycogen storage disease: type 1aSP.</strong>
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J. Inherit. Metab. Dis. 13: 247-249, 1990.
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[Full Text: https://doi.org/10.1007/BF01799362]
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<li>
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<p class="mim-text-font">
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Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I.
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<strong>Mutation analysis in 24 French patients with glycogen storage disease type 1a.</strong>
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J. Med. Genet. 33: 358-360, 1996.
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[PubMed: 8733042]
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[Full Text: https://doi.org/10.1136/jmg.33.5.358]
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<p class="mim-text-font">
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Ekstein, J., Rubin, B. Y., Anderson, S. L., Weinstein, D. A., Bach, G., Abeliovich, D., Webb, M., Risch, N.
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<strong>Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.</strong>
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Am. J. Med. Genet. 129A: 162-164, 2004.
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[PubMed: 15316959]
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[Full Text: https://doi.org/10.1002/ajmg.a.30232]
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Kajihara, S., Matsuhashi, S., Yamamoto, K., Kido, K., Tsuji, K., Tanae, A., Fujiyama, S., Itoh, T., Tanigawa, K., Uchida, M., Setoguchi, Y., Motomura, M., Mizuta, T., Sakai, T.
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<strong>Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.</strong>
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Am. J. Hum. Genet. 57: 549-555, 1995.
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[PubMed: 7668282]
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Ki, C.-S., Han, S.-H., Kim, H.-J., Lee, S.-G., Kim, E.-J., Kim, J.-W., Choe, Y. H., Seo, J. K., Chang, Y. J., Park, J. Y.
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<strong>Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.</strong>
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Clin. Genet. 65: 487-489, 2004.
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[PubMed: 15151508]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2004.00260.x]
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<p class="mim-text-font">
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Lee, W.-J., Lee, H.-M., Chi, C.-S., Shu, S.-G., Lin, L.-Y., Lin, W.-H.
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<strong>Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.</strong>
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Clin. Genet. 50: 206-211, 1996.
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[PubMed: 9001800]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1996.tb02627.x]
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<p class="mim-text-font">
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Lei, K.-J., Chen, Y.-T., Chen, H., Wong, L.-J. C., Liu, J.-L., McConkie-Rosell, A., Van Hove, J. L. K., Ou, H. C.-Y., Yeh, N. J., Pan, L. Y., Chou, J. Y.
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<strong>Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.</strong>
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Am. J. Hum. Genet. 57: 766-771, 1995.
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[PubMed: 7573034]
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</li>
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<li>
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<p class="mim-text-font">
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Lei, K.-J., Pan, C.-J., Shelly, L. L., Liu, J.-L., Chou, J. Y.
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<strong>Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong>
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J. Clin. Invest. 93: 1994-1999, 1994.
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[PubMed: 8182131]
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[Full Text: https://doi.org/10.1172/JCI117192]
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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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Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y.
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<strong>Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.</strong>
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|
Science 262: 580-583, 1993.
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[PubMed: 8211187]
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[Full Text: https://doi.org/10.1126/science.8211187]
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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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Nakai, K., Sakamoto, H.
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<strong>Construction of a novel database containing aberrant splicing mutations of mammalian genes.</strong>
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Gene 141: 171-177, 1994.
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[PubMed: 8163185]
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[Full Text: https://doi.org/10.1016/0378-1119(94)90567-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Parvari, R., Lei, K.-J., Bashan, N., Hershkovitz, E., Korman, S. H., Barash, V., Lerman-Sagie, T., Mandel, H., Chou, J. Y., Moses, S. W.
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<strong>Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.</strong>
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Am. J. Med. Genet. 72: 286-290, 1997.
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[PubMed: 9332655]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p]
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</p>
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<li>
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<p class="mim-text-font">
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|
Qu, Y., Abdenur, J. E., Eng, C. M., Desnick, R. J.
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<strong>Molecular prenatal diagnosis of glycogen storage disease type Ia.</strong>
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Prenatal Diag. 16: 333-336, 1996.
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[PubMed: 8734807]
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[Full Text: https://doi.org/10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G]
|
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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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|
Shelly, L. L., Lei, K.-J., Pan, C.-J., Sakata, S. F., Ruppert, S., Schutz, G., Chou, J. Y.
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<strong>Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.</strong>
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J. Biol. Chem. 268: 21482-21485, 1993.
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|
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[PubMed: 8407995]
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|
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Stroppiano, M., Regis, S., DiRocco, M., Caroli, F., Gandullia, P., Gatti, R.
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<strong>Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.</strong>
|
|
J. Inherit. Metab. Dis. 22: 43-49, 1999.
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[PubMed: 10070617]
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[Full Text: https://doi.org/10.1023/a:1005495131118]
|
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
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Weston, B. W., Lin, J.-L., Muenzer, J., Cameron, H. S., Arnold, R. R., Seydewitz, H. H., Mayatepek, E., Van Schaftingen, E., Veiga-da-Cunha, M., Matern, D., Chen, Y. T.
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<strong>Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.</strong>
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Pediat. Res. 48: 329-334, 2000.
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[PubMed: 10960498]
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[Full Text: https://doi.org/10.1203/00006450-200009000-00011]
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Carol A. Bocchini : 2/14/2011
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