4679 lines
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Entry
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- *610860 - AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL
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- OMIM
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<p>
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<span class="h4">*610860</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</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/610860">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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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=ENSG00000162688;t=ENST00000361915" 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=178" 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=610860" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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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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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000162688;t=ENST00000361915" 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_000028,NM_000642,NM_000643,NM_000644,NM_000646,NM_001425325,NM_001425326,NM_001425327,NM_001425328,NM_001425329,NM_001425332,XM_005270557,XM_017000501" 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_000642" 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=610860" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01984&isoform_id=01984_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/AGL" 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/187577,1857620,1857622,1857624,1857626,1857628,6580116,50927460,62087314,116242491,116734847,116734851,116734853,116734857,116734860,119593386,119593387,119593388,119593389,119593390,119593391,119593392,119593393,344179024,530361985,925169865,949607344,1034556085,2462505452,2462505454,2619488208,2619488210,2619488215,2619488217,2619488220,2619488226" 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/P35573" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=178" 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=ENSG00000162688;t=ENST00000361915" 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=AGL" 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=AGL" 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+178" 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/AGL" 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:178" 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/178" 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=chr1&hgg_gene=ENST00000361915.8&hgg_start=99849258&hgg_end=99924023&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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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:321" 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/agl" 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=610860[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=610860[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000162688" 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=AGL" 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=AGL" 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=AGL" 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=AGL&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/PA24618" 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:321" 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/FBgn0034618.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:1924809" 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/AGL#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:1924809" 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/178/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/OMIA001577/" 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=178" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00011050;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050309-54" 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">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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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:178" 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=AGL&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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</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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610860
|
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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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AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL
|
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLYCOGEN DEBRANCHER ENZYME; GDE
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=AGL" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">AGL</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/1/832?start=-3&limit=10&highlight=832">1p21.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:99849258-99924023&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'})">1:99,849,258-99,924,023</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
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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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832">
|
|
1p21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease IIIa
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/232400"> 232400 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease IIIb
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/232400"> 232400 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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</tbody>
|
|
</table>
|
|
</div>
|
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</div>
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<div>
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<div class="btn-group">
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<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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<p>The AGL gene encodes the glycogen debrancher enzyme, a large monomeric protein with a molecular mass of approximately 160 kD. The enzyme has 2 catalytic activities: amylo-1,6-glucosidase (<a href="https://enzyme.expasy.org/EC/3.2.1.33" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.2.1.33</a>) and 4-alpha-glucanotransferase (<a href="https://enzyme.expasy.org/EC/2.4.1.25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.25</a>). The 2 activities are determined at separate catalytic sites on the polypeptide chain and can function independently of each other. Both activities and glycogen binding are required for complete function (<a href="#17" class="mim-tip-reference" title="Shen, J., Bao, Y., Liu, H.-M., Lee, P., Leonard, J. V., Chen, Y.-T. <strong>Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.</strong> J. Clin. Invest. 98: 352-357, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755644</a>] [<a href="https://doi.org/10.1172/JCI118799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8755644">Shen et al., 1996</a>; <a href="#5" class="mim-tip-reference" title="Endo, Y., Horinishi, A., Vorgerd, M., Aoyama, Y., Ebara, T., Murase, T., Odawara, M., Podskarbi, T., Shin, Y. S., Okubo, M. <strong>Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.</strong> J. Hum. Genet. 51: 958-963, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17047887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17047887</a>] [<a href="https://doi.org/10.1007/s10038-006-0045-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17047887">Endo et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8755644+17047887" 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>Yang et al. (<a href="#19" class="mim-tip-reference" title="Yang, B.-Z., Ding, J.-H., Bao, Y., Eason, J. F. M., Chen, Y.-T. <strong>Molecular basis of the enzymatic variability in type III glycogen storage disease (GSD-III). (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A28, 1992."None>1992</a>, <a href="#18" class="mim-tip-reference" title="Yang, B. Z., Ding, J. H., Enghild, J. J., Bao, Y., Chen, Y. T. <strong>Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.</strong> J. Biol. Chem. 267: 9294-9299, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1374391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1374391</a>]" pmid="1374391">1992</a>) isolated a full-length cDNA corresponding to the human muscle glycogen debranching enzyme. The deduced 1,532-residue protein has a molecular mass of approximately 173 kD. Northern blot analysis detected a 7-kb mRNA transcript. The liver mRNA sequence is identical to the muscle sequence for most of the length, except for the 5-prime end in which the liver sequence diverges completely from the muscle sequence, beginning with the putative transcription initiation site to the ninth nucleotide upstream of the translation initiation codon. Thus, the muscle and liver isoforms are generated via differential RNA transcription, with an alternative first exon usage, from a single gene. <a href="#16" class="mim-tip-reference" title="Shen, J,, Bao, Y., Chen, Y.-T. <strong>A nonsense mutation due to a single base insertion in the 3-prime-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.</strong> Hum. Mutat. 9: 37-40, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990006</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990006">Shen et al. (1997)</a> cited their unpublished data indicating that 17 additional amino acids precede the N terminus of the AGL gene sequence published by <a href="#18" class="mim-tip-reference" title="Yang, B. Z., Ding, J. H., Enghild, J. J., Bao, Y., Chen, Y. T. <strong>Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.</strong> J. Biol. Chem. 267: 9294-9299, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1374391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1374391</a>]" pmid="1374391">Yang et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1374391+8990006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bao, Y., Dawson, T. L., Jr., Chen, Y.-T. <strong>Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5-prime flanking region.</strong> Genomics 38: 155-165, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954797</a>] [<a href="https://doi.org/10.1006/geno.1996.0611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8954797">Bao et al. (1996)</a> stated that there are at least 6 isoforms of AGL produced by alternative splicing. The major isoform, isoform 1, begins transcription at exon 1 and begins translation at exon 3. Muscle-specific isoforms (2, 3, and 4) begin transcription at exon 2. Minor isoforms (5 and 6) begin further within the gene. Reporter assays revealed that promoter region 1 (for isoform 1) was functional in liver, muscle, and ovary, while promoter region 2 (for isoforms 2, 3, and 4) was active only in muscle cells. The authors concluded that the human AGL gene contains at least 2 promoter regions that confer differential expression of isoform mRNAs in a tissue-specific manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8954797" 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="#3" class="mim-tip-reference" title="Cheng, A., Zhang, M., Gentry, M. S., Worby, C. A., Dixon, J. E., Saltiel, A. R. <strong>A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.</strong> Genes Dev. 21: 2399-2409, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17908927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17908927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17908927[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.1553207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17908927">Cheng et al. (2007)</a> showed that malin (NHLRC1; <a href="/entry/608072">608072</a>), an E3 ubiquitin ligase mutated in Lafora disease (<a href="/entry/254780">254780</a>), interacted with mouse Agl and promoted its ubiquitination. Transfection studies in HepG2 cells showed that Agl was cytoplasmic, whereas malin was predominantly nuclear. However, after depletion of glycogen stores, about 90% of transfected cells exhibited partial nuclear Agl staining. Elevation of cAMP increased malin levels and malin/Agl complex formation. Refeeding mice for 2 hours after overnight fasting reduced hepatic Agl levels by 48%. <a href="#3" class="mim-tip-reference" title="Cheng, A., Zhang, M., Gentry, M. S., Worby, C. A., Dixon, J. E., Saltiel, A. R. <strong>A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.</strong> Genes Dev. 21: 2399-2409, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17908927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17908927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17908927[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.1553207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17908927">Cheng et al. (2007)</a> concluded that binding of glycogen regulates the stability of AGL and that ubiquitination of AGL may play a role in the pathophysiology of both Lafora disease and Cori disease (<a href="/entry/232400">232400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17908927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Bao, Y., Dawson, T. L., Jr., Chen, Y.-T. <strong>Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5-prime flanking region.</strong> Genomics 38: 155-165, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954797</a>] [<a href="https://doi.org/10.1006/geno.1996.0611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8954797">Bao et al. (1996)</a> determined that the AGL gene is encoded by 35 exons spanning 85 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8954797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#20" class="mim-tip-reference" title="Yang-Feng, T. L., Zheng, K., Yu, J., Yang, B.-Z., Chen, Y.-T., Kao, F.-T. <strong>Assignment of the human glycogen debrancher gene to chromosome 1p21.</strong> Genomics 13: 931-934, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505983</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90003-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1505983">Yang-Feng et al. (1992)</a> mapped the AGL gene to chromosome 1p21 by somatic cell hybrid analysis and in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1505983" 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 3 unrelated patients with glycogen storage disease IIIb (GSD3B; <a href="/entry/232400">232400</a>), <a href="#17" class="mim-tip-reference" title="Shen, J., Bao, Y., Liu, H.-M., Lee, P., Leonard, J. V., Chen, Y.-T. <strong>Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.</strong> J. Clin. Invest. 98: 352-357, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755644</a>] [<a href="https://doi.org/10.1172/JCI118799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8755644">Shen et al. (1996)</a> identified homozygous or compound heterozygous mutations in the AGL gene (see, e.g., <a href="#0002">610860.0002</a>-<a href="#0004">610860.0004</a>). One of the mutations (c.17_18delAG; <a href="#0004">610860.0004</a>) was found in 8 of 10 additional GSD IIIb patients. Mutations in exon 3 were present in 12 of 13 GSD IIIb patients, suggesting a specific association. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755644" 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="Shen, J,, Bao, Y., Chen, Y.-T. <strong>A nonsense mutation due to a single base insertion in the 3-prime-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.</strong> Hum. Mutat. 9: 37-40, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990006</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990006">Shen et al. (1997)</a> identified a homozygous mutation in the AGL gene (<a href="#0001">610860.0001</a>) in a child with an unusually severe GSD IIIa (GSD3A; <a href="/entry/232400">232400</a>) phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990006" 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="Okubo, M., Horinishi, A., Makamura, N., Aoyama, Y., Hashimoto, M., Endo, Y., Murase, T. <strong>A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-to-G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.</strong> Hum. Genet. 102: 1-5, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9490286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9490286</a>] [<a href="https://doi.org/10.1007/s004390050646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9490286">Okubo et al. (1998)</a> identified a homozygous mutation in the AGL gene (<a href="#0006">610860.0006</a>) in a Japanese patient with GSD IIIb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9490286" 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="Hadjigeorgiou, G. M., Comi, G. P., Bordoni, A., Shen, J., Chen, Y.-T., Salani, S., Toscano, A., Fortunato, F., Lucchiari, S., Bresolin, N., Rodolico, C., Piscaglia, M. G., Franceschina, L., Papadimitriou, A., Scarlato, G. <strong>Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.</strong> J. Inherit. Metab. Dis. 22: 762-763, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10472540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10472540</a>] [<a href="https://doi.org/10.1023/a:1005572906807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10472540">Hadjigeorgiou et al. (1999)</a> reported 4 adult Italian patients with GSD IIIa. All of the patients had a history of infantile hepatomegaly followed by myopathy in their twenties. AGL activity and protein were almost absent in muscle specimens. RT-PCR revealed truncated muscle AGL cDNA in all 4 patients due to skipping of different exons. <a href="#6" class="mim-tip-reference" title="Hadjigeorgiou, G. M., Comi, G. P., Bordoni, A., Shen, J., Chen, Y.-T., Salani, S., Toscano, A., Fortunato, F., Lucchiari, S., Bresolin, N., Rodolico, C., Piscaglia, M. G., Franceschina, L., Papadimitriou, A., Scarlato, G. <strong>Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.</strong> J. Inherit. Metab. Dis. 22: 762-763, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10472540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10472540</a>] [<a href="https://doi.org/10.1023/a:1005572906807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10472540">Hadjigeorgiou et al. (1999)</a> commented that the AGL gene mutations described to date account for less than half of the total mutant alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10472540" 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 Japan, <a href="#11" class="mim-tip-reference" title="Okubo, M., Horinishi, A., Takeuchi, M., Suzuki, Y., Sakura, N., Hasegawa, Y., Igarashi, T., Goto, K., Tahara, H., Uchimoto, S., Omichi, K., Kanno, H., Hayasaka, K., Murase, T. <strong>Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.</strong> Hum. Genet. 106: 108-115, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982190</a>] [<a href="https://doi.org/10.1007/s004390051017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982190">Okubo et al. (2000)</a> investigated 8 Japanese GSD IIIa patients from 7 families and identified 7 mutations, including 1 splicing mutation (<a href="#0007">610860.0007</a>) that they had previously reported (<a href="#8" class="mim-tip-reference" title="Okubo, M., Aoyama, Y., Murase, T. <strong>A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.</strong> Biochem. Biophys. Res. Commun. 224: 493-499, 1996. Note: Erratum: Biochem. Biophys. Res. Commun. 225: 695 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8702417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8702417</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8702417">Okubo et al., 1996</a>), together with 6 novel ones. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8702417+10982190" 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="Shaiu, W.-L., Kishnani, P. S., Shen, J., Liu, H.-M., Chen, Y.-T. <strong>Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.</strong> Molec. Genet. Metab. 69: 16-23, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655153</a>] [<a href="https://doi.org/10.1006/mgme.1999.2953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655153">Shaiu et al. (2000)</a> reported 2 frequent mutations, each of which was found in the homozygous state in multiple patients, and each of which was associated with a subset of clinical phenotype in those patients with that mutation. One mutation, IVS32-12A-G (<a href="#0006">610860.0006</a>), was identified in homozygosity in a confirmed GSD IIIa Caucasian patient who presented with mild clinical symptoms. This mutation had an allele frequency of approximately 5.5% in GSD III patients tested. The other common mutation, 3964delT (<a href="#0010">610860.0010</a>), was identified in an African American patient who had a severe phenotype and early onset of clinical symptoms. The mutation was later identified in several other patients and was observed at a frequency of approximately 6.7%. Together, these 2 mutations can account for more than 12% of the molecular defects in GSD III patients. <a href="#15" class="mim-tip-reference" title="Shaiu, W.-L., Kishnani, P. S., Shen, J., Liu, H.-M., Chen, Y.-T. <strong>Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.</strong> Molec. Genet. Metab. 69: 16-23, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655153</a>] [<a href="https://doi.org/10.1006/mgme.1999.2953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655153">Shaiu et al. (2000)</a> also identified 6 additional mutations and reviewed the nonmutation state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Lucchiari, S., Fogh, I., Prelle, A., Parini, R., Bresolin, N., Melis, D., Fiori, L., Scarlato, G., Comi, G. P. <strong>Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.</strong> Am. J. Med. Genet. 109: 183-190, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11977176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11977176</a>] [<a href="https://doi.org/10.1002/ajmg.10347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11977176">Lucchiari et al. (2002)</a> identified 7 novel mutations of the AGL gene in patients with GSD IIIa in the Mediterranean area. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11977176" 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="Endo, Y., Horinishi, A., Vorgerd, M., Aoyama, Y., Ebara, T., Murase, T., Odawara, M., Podskarbi, T., Shin, Y. S., Okubo, M. <strong>Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.</strong> J. Hum. Genet. 51: 958-963, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17047887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17047887</a>] [<a href="https://doi.org/10.1007/s10038-006-0045-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17047887">Endo et al. (2006)</a> identified 9 different mutations in the AGL gene, including 6 novel mutations, among 9 patients with GSD III. The patients were from Germany, Canada, Afghanistan, Iran, and Turkey. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17047887" 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="Aoyama, Y., Ozer, I., Demirkol, M., Ebara, T., Murase, T., Podskarbi, T., Shin, Y. S., Gokcay, G., Okubo, M. <strong>Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.</strong> J. Hum. Genet. 54: 681-686, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19834502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19834502</a>] [<a href="https://doi.org/10.1038/jhg.2009.100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19834502">Aoyama et al. (2009)</a> identified 10 different AGL mutations, including 8 novel mutations (see, e.g., <a href="#0014">610860.0014</a> and <a href="#0015">610860.0015</a>), in 23 Turkish patients with GSD III, including GSD type IIIc (GSD3C; <a href="/entry/232400">232400</a>). No genotype/phenotype correlations were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19834502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Cheng, A., Zhang, M., Okubo, M., Omichi, K., Saltiel, A. R. <strong>Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.</strong> Hum. Molec. Genet. 18: 2045-2052, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299494</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19299494[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299494">Cheng et al. (2009)</a> studied 4 rare AGL mutations, including G1448R (<a href="#0009">610860.0009</a>), to determine the molecular basis of GSD III pathogenesis. The L620P mutation primarily abolished transferase activity in transfected cells, whereas the R1147G (<a href="#0014">610860.0014</a>) mutation only impaired glucosidase function. The R1448R and Y1445ins mutations in the carbohydrate-binding domain (CBD) were more severe in nature, leading to significant loss of all enzymatic activities and carbohydrate binding ability, as well as enhancing targeting for proteasomal degradation. <a href="#4" class="mim-tip-reference" title="Cheng, A., Zhang, M., Okubo, M., Omichi, K., Saltiel, A. R. <strong>Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.</strong> Hum. Molec. Genet. 18: 2045-2052, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299494</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19299494[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299494">Cheng et al. (2009)</a> concluded that inactivation of either enzymatic activity is sufficient to cause GSD III disease, and suggested that the CBD of AGL may play a major role to coordinate its functions and regulation by the ubiquitin-proteasome system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a child with an unusually severe phenotype of glycogen storage disease type IIIa (GSD3A; <a href="/entry/232400">232400</a>) manifested in both liver and muscle, <a href="#16" class="mim-tip-reference" title="Shen, J,, Bao, Y., Chen, Y.-T. <strong>A nonsense mutation due to a single base insertion in the 3-prime-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.</strong> Hum. Mutat. 9: 37-40, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990006</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990006">Shen et al. (1997)</a> identified a homozygous 1-bp insertion (4529insA) in the 3-prime coding region of the AGL gene. The mutation created a termination codon at residue 1510 of their sequence. (They stated that amino acid residue 1510 in their study corresponded to residue 1493 of the <a href="#18" class="mim-tip-reference" title="Yang, B. Z., Ding, J. H., Enghild, J. J., Bao, Y., Chen, Y. T. <strong>Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.</strong> J. Biol. Chem. 267: 9294-9299, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1374391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1374391</a>]" pmid="1374391">Yang et al. (1992)</a> sequence.) The child had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly, and died at 4 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1374391+8990006" 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> rs113994126 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994126;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/rs113994126?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=rs113994126" 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=rs113994126" 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=RCV000001153 OR RCV000020373 OR RCV000675315" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001153, RCV000020373, RCV000675315" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001153...</a>
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<p>In a 41-year-old patient with hepatic glycogen storage disease type III (GSD3B; <a href="/entry/232400">232400</a>), but with no clinical or laboratory evidence of myopathy or cardiomyopathy, <a href="#17" class="mim-tip-reference" title="Shen, J., Bao, Y., Liu, H.-M., Lee, P., Leonard, J. V., Chen, Y.-T. <strong>Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.</strong> J. Clin. Invest. 98: 352-357, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755644</a>] [<a href="https://doi.org/10.1172/JCI118799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8755644">Shen et al. (1996)</a> demonstrated compound heterozygosity for 2 mutations in the AGL gene: a 16C-T transition, resulting in a gln6-to-ter (Q6X) substitution and W680X (<a href="#0003">610860.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 GLYCOGEN STORAGE DISEASE, TYPE IIIb</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> rs113994129 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994129;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/rs113994129?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=rs113994129" 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=rs113994129" 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=RCV000001154 OR RCV000020375 OR RCV000578784" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001154, RCV000020375, RCV000578784" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001154...</a>
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<p>In a 41-year-old patient with hepatic glycogen storage disease type III (GSD3B; <a href="/entry/232400">232400</a>), but with no clinical or laboratory evidence of myopathy or cardiomyopathy, <a href="#17" class="mim-tip-reference" title="Shen, J., Bao, Y., Liu, H.-M., Lee, P., Leonard, J. V., Chen, Y.-T. <strong>Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.</strong> J. Clin. Invest. 98: 352-357, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755644</a>] [<a href="https://doi.org/10.1172/JCI118799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8755644">Shen et al. (1996)</a> demonstrated compound heterozygosity for 2 mutations in the AGL gene: a 2039G-A transition, resulting in a trp680-to-ter (W680X) substitution, and Q6X (<a href="#0002">610860.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GLYCOGEN STORAGE DISEASE, TYPE IIIb</strong>
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AGL, 2-BP DEL, 17AG
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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> rs113994127 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994127;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/rs113994127?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=rs113994127" 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=rs113994127" 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=RCV000001155 OR RCV000175637 OR RCV000723819 OR RCV004745253" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001155, RCV000175637, RCV000723819, RCV004745253" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001155...</a>
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<p>In 10 of 13 patients with GSD IIIb (GSD3B; <a href="/entry/232400">232400</a>), <a href="#17" class="mim-tip-reference" title="Shen, J., Bao, Y., Liu, H.-M., Lee, P., Leonard, J. V., Chen, Y.-T. <strong>Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.</strong> J. Clin. Invest. 98: 352-357, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755644</a>] [<a href="https://doi.org/10.1172/JCI118799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8755644">Shen et al. (1996)</a> identified a 2-bp deletion (c.17_18delAG) in the AGL gene, resulting in a truncated protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 GLYCOGEN STORAGE DISEASE, TYPE IIIa</strong>
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AGL, 1-BP DEL, 4455T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113994134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994134;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=rs113994134" 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=rs113994134" 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=RCV000001156 OR RCV000177731 OR RCV000723822 OR RCV004745137" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001156, RCV000177731, RCV000723822, RCV004745137" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001156...</a>
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<p>In 13 patients with GSD III (GSD3A; <a href="/entry/232400">232400</a>) from 11 families, <a href="#13" class="mim-tip-reference" title="Parvari, R., Moses, S., Shen, J., Hershkovitz, E., Lerner, A., Chen, Y.-T. <strong>A single-base deletion in the 3-prime coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.</strong> Europ. J. Hum. Genet. 5: 266-270, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9412782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9412782</a>]" pmid="9412782">Parvari et al. (1997)</a> identified a homozygous 1-bp deletion (4455delT) in exon 34 of the AGL gene, resulting in a frameshift and truncation of the last 30 amino acid residues of the protein. All patients were of North African Jewish descent and had liver and muscle involvement. While all patients showed the characteristic features related to the liver enzyme deficiency, the peripheral muscular impairment varied from minimal to severe, with neuromuscular involvement. The mutation appeared to be ethnic-specific as it was not seen in 18 patients of different ethnic origins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9412782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 GLYCOGEN STORAGE DISEASE, TYPE IIIb</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">rs113994133 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994133;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=rs113994133" 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=rs113994133" 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> rs369973784 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs369973784;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/rs369973784?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=rs369973784" 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=rs369973784" 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=RCV000001157 OR RCV000001158 OR RCV000020379 OR RCV000675344 OR RCV003407251" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001157, RCV000001158, RCV000020379, RCV000675344, RCV003407251" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001157...</a>
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<p>In a 31-year-old Japanese female with GSD type IIIb (GSD3B; <a href="/entry/232400">232400</a>), <a href="#9" class="mim-tip-reference" title="Okubo, M., Horinishi, A., Makamura, N., Aoyama, Y., Hashimoto, M., Endo, Y., Murase, T. <strong>A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-to-G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.</strong> Hum. Genet. 102: 1-5, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9490286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9490286</a>] [<a href="https://doi.org/10.1007/s004390050646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9490286">Okubo et al. (1998)</a> detected a homozygous A-to-G transition in the AGL gene 12 bp upstream of exon 33 that caused activation of a cryptic splice site and insertion of an extra 11 bp of intronic sequence between exons 32 and 33. The mutation was predicted to change the last 15 consecutive C-terminal amino acids before premature termination at codon 1436 and loss of 112 terminal amino acids. The patient's parents were first cousins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9490286" 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="Shaiu, W.-L., Kishnani, P. S., Shen, J., Liu, H.-M., Chen, Y.-T. <strong>Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.</strong> Molec. Genet. Metab. 69: 16-23, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655153</a>] [<a href="https://doi.org/10.1006/mgme.1999.2953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655153">Shaiu et al. (2000)</a> identified this mutation in homozygosity in a GSD type IIIa (GSD3A; <a href="/entry/232400">232400</a>) Caucasian patient presenting with mild clinical symptoms. They found that the IVS32-12A-G mutation had an allelic frequency of about 5.5% in the GSD III patients tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655153" 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> rs199922945 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199922945;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/rs199922945?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=rs199922945" 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=rs199922945" 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=RCV000001159 OR RCV000169137" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001159, RCV000169137" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001159...</a>
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<p>In a Japanese man with glycogen storage disease type IIIa (GSD3A; <a href="/entry/232400">232400</a>), <a href="#8" class="mim-tip-reference" title="Okubo, M., Aoyama, Y., Murase, T. <strong>A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.</strong> Biochem. Biophys. Res. Commun. 224: 493-499, 1996. Note: Erratum: Biochem. Biophys. Res. Commun. 225: 695 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8702417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8702417</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8702417">Okubo et al. (1996)</a> reported heterozygosity for a 124-bp deletion in the AGL gene, corresponding to a single exon. The deletion resulted from a G-to-T transversion at the donor splice site immediately downstream of the deletion. The mutation was predicted to result in a truncated enzyme. This was the first mutation in the AGL gene identified in a patient with GSD III. The patient was a 43-year-old Japanese man who had been diagnosed with GSD III at 18 years of age. He had hepatomegaly and muscle weakness. Family history showed no consanguinity. The patient's asymptomatic father and son were also heterozygous for the mutation. Southern blot analysis of the patient's genomic DNA showed an additional, unique EcoRI fragment of 5.8 kb, inherited from the mother (<a href="#0008">610860.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8702417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001160" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001160" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001160</a>
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<p>See <a href="#0007">610860.0007</a> and <a href="#8" class="mim-tip-reference" title="Okubo, M., Aoyama, Y., Murase, T. <strong>A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.</strong> Biochem. Biophys. Res. Commun. 224: 493-499, 1996. Note: Erratum: Biochem. Biophys. Res. Commun. 225: 695 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8702417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8702417</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8702417">Okubo et al. (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8702417" 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">rs118203964 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203964;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=rs118203964" 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=rs118203964" 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=RCV000001161" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001161" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001161</a>
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<p>In a Japanese patient, born from a consanguineous family, with GSD IIIa (GSD3A; <a href="/entry/232400">232400</a>), <a href="#12" class="mim-tip-reference" title="Okubo, M., Kanda, F., Horinishi, A., Takahashi, K., Okuda, S., Chihara, K., Murase, T. <strong>Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. (Abstract)</strong> Hum. Mutat. 14: 542-543, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10571954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10571954</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU15>3.0.CO;2-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10571954">Okubo et al. (1999)</a> identified a homozygous 4742G-C transversion in exon 33 of the AGL gene, resulting in a gly1448-to-arg (G1448R) substitution in a putative glycogen-binding site that is indispensable for enzyme activity. The authors claimed that this was the first report of a missense mutation associated with GSD III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10571954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cheng, A., Zhang, M., Gentry, M. S., Worby, C. A., Dixon, J. E., Saltiel, A. R. <strong>A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.</strong> Genes Dev. 21: 2399-2409, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17908927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17908927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17908927[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.1553207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17908927">Cheng et al. (2007)</a> showed that mouse Agl with the G1448R mutation was unable to bind glycogen and displayed decreased stability that was rescued by proteasome inhibition. Agl G1148R was more highly ubiquitinated than wildtype Agl. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17908927" 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> rs113994132 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994132;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/rs113994132?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=rs113994132" 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=rs113994132" 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=RCV000001162 OR RCV000020378 OR RCV000723821" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001162, RCV000020378, RCV000723821" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001162...</a>
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<p>In a 25-year-old African American female with GSD IIIa (GSD3A; <a href="/entry/232400">232400</a>), <a href="#15" class="mim-tip-reference" title="Shaiu, W.-L., Kishnani, P. S., Shen, J., Liu, H.-M., Chen, Y.-T. <strong>Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.</strong> Molec. Genet. Metab. 69: 16-23, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655153</a>] [<a href="https://doi.org/10.1006/mgme.1999.2953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655153">Shaiu et al. (2000)</a> identified a homozygous 1-bp deletion (3964delT) in the AGL gene. She presented with hepatomegaly, symptomatic hypoglycemia, and failure to thrive at 1 year of age. Muscle involvement as truncal hypotonia and proximal upper and lower extremity weakness were noted since 7 years of age, with CPK values ranging from 300 to 1,000 IU. At 25 years of age, progressive myopathy, hepatomegaly, and repeated episodes of hypoglycemia were apparent. This mutation was subsequently identified in homozygosity in several patients with similar presentation and had an overall frequency of around 6.7% in the GSD III patients tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655153" 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>.0011 GLYCOGEN STORAGE DISEASE, TYPE IIIb</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">rs387906246 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906246;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=rs387906246" 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=rs387906246" 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=RCV000001163" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001163" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001163</a>
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<p>In a 2-year-old patient of mixed Asian ancestry with glycogen storage disease type IIIb (GSD3B; <a href="/entry/232400">232400</a>), <a href="#10" class="mim-tip-reference" title="Okubo, M., Horinishi, A., Suzuki, Y., Murase, T., Hayasaka, K. <strong>Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.</strong> Am. J. Med. Genet. 93: 211-214, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10925384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10925384</a>] [<a href="https://doi.org/10.1002/1096-8628(20000731)93:3<211::aid-ajmg10>3.0.co;2-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10925384">Okubo et al. (2000)</a> observed compound heterozygosity for 2 mutations in the AGL gene: a deletion of 2399C in exon 16 inherited from the Japanese father, and a G-to-A transition at position +5 at the donor splice site of intron 33 (<a href="#0012">610860.0012</a>) inherited from the Chinese mother. The girl had been admitted to hospital because of liver dysfunction. Hepatomegaly was first noted at age 4 months. She had experienced occasional hypoglycemia, and growth retardation was noted. Muscular manifestations were not described. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10925384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 GLYCOGEN STORAGE DISEASE, TYPE IIIb</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> rs780504025 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs780504025;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/rs780504025?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=rs780504025" 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=rs780504025" 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=RCV000001164 OR RCV000991301 OR RCV001558704" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001164, RCV000991301, RCV001558704" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001164...</a>
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<p>For discussion of the splice site mutation in the AGL gene that was found in compound heterozygous state in a patient with glycogen storage disease type IIIb (GSD3B; <a href="/entry/232400">232400</a>) by <a href="#10" class="mim-tip-reference" title="Okubo, M., Horinishi, A., Suzuki, Y., Murase, T., Hayasaka, K. <strong>Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.</strong> Am. J. Med. Genet. 93: 211-214, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10925384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10925384</a>] [<a href="https://doi.org/10.1002/1096-8628(20000731)93:3<211::aid-ajmg10>3.0.co;2-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10925384">Okubo et al. (2000)</a>, see <a href="#0011">610860.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10925384" 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, TYPE IIIa</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> rs113994128 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994128;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/rs113994128?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=rs113994128" 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=rs113994128" 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=RCV000001165 OR RCV000020372 OR RCV001582458" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001165, RCV000020372, RCV001582458" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001165...</a>
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<p>In 6 children from 5 families with GSD IIIa (GSD3A; <a href="/entry/232400">232400</a>) from the Faroe Islands, <a href="#14" class="mim-tip-reference" title="Santer, R., Kinner, M., Steuerwald, U., Kjaergaard, S., Skovby, F., Simonsen, H., Shaiu, W.-L., Chen, Y.-T., Schneppenheim, R., Schaub, J. <strong>Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.</strong> Europ. J. Hum. Genet. 9: 388-391, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11378828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11378828</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11378828">Santer et al. (2001)</a> identified a homozygous 1222C-T transition in the AGL gene, resulting in an arg408-to-ter substitution (R408X). All patients were homozygous for the same haplotype defined by 5 intragenic polymorphisms, supporting a founder effect. The R408X mutation was also detected in compound heterozygosity in 2 of 50 GSD IIIa patients of other European or North American origin. Whereas the mutation was not detected in 198 German newborns, 9 of 272 Faroese newborns were heterozygous, predicting a carrier frequency of 1 in 30 and a calculated prevalence of 1 per 3,600 in the Faroese population. The population of 45,000 of this small archipelago in the North Atlantic has its roots in the colonization by Norwegians in the 8th century and throughout the Viking Age. <a href="#14" class="mim-tip-reference" title="Santer, R., Kinner, M., Steuerwald, U., Kjaergaard, S., Skovby, F., Simonsen, H., Shaiu, W.-L., Chen, Y.-T., Schneppenheim, R., Schaub, J. <strong>Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.</strong> Europ. J. Hum. Genet. 9: 388-391, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11378828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11378828</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11378828">Santer et al. (2001)</a> concluded that due to a founder effect, the Faroe Islands have the highest prevalence of GSD IIIa worldwide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11378828" 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, TYPE IIIc</strong>
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AGL, ARG1147GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606639 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606639;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=rs267606639" 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=rs267606639" 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=RCV000001166" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001166" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001166</a>
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<p>In a 14-year-old Turkish girl with isolated glucosidase deficiency, known as glycogen storage disease type IIIc (GSD3C; <a href="/entry/232400">232400</a>), <a href="#1" class="mim-tip-reference" title="Aoyama, Y., Ozer, I., Demirkol, M., Ebara, T., Murase, T., Podskarbi, T., Shin, Y. S., Gokcay, G., Okubo, M. <strong>Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.</strong> J. Hum. Genet. 54: 681-686, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19834502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19834502</a>] [<a href="https://doi.org/10.1038/jhg.2009.100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19834502">Aoyama et al. (2009)</a> identified a homozygous 3439A-G transition in exon 27 of the AGL gene, resulting in an arg1147-to-gly (R1147G) substitution in a conserved residue in the C-terminal region. The patient had mild hepatomegaly, but did not have hypoglycemia or clinical muscle involvement. <a href="#4" class="mim-tip-reference" title="Cheng, A., Zhang, M., Okubo, M., Omichi, K., Saltiel, A. R. <strong>Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.</strong> Hum. Molec. Genet. 18: 2045-2052, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299494</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19299494[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299494">Cheng et al. (2009)</a> showed that the R1147G-mutant protein lost glucosidase activity, but retained 40% of transferase activity compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19299494+19834502" 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>.0015 GLYCOGEN STORAGE DISEASE, TYPE IIIa</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> rs267606640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606640;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/rs267606640?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=rs267606640" 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=rs267606640" 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=RCV000001167 OR RCV000333868 OR RCV000435914" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001167, RCV000333868, RCV000435914" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001167...</a>
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<p>In 6 Turkish patients with glycogen storage disease type IIIa (GSD3A; <a href="/entry/232400">232400</a>), <a href="#1" class="mim-tip-reference" title="Aoyama, Y., Ozer, I., Demirkol, M., Ebara, T., Murase, T., Podskarbi, T., Shin, Y. S., Gokcay, G., Okubo, M. <strong>Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.</strong> J. Hum. Genet. 54: 681-686, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19834502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19834502</a>] [<a href="https://doi.org/10.1038/jhg.2009.100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19834502">Aoyama et al. (2009)</a> identified a homozygous 3980G-A transition in exon 31 of the AGL gene, resulting in a trp1327-to-ter (W1327X) substitution. All 6 patients were from 2 cities in the eastern Black Sea region, and haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19834502" 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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Aoyama, Y., Ozer, I., Demirkol, M., Ebara, T., Murase, T., Podskarbi, T., Shin, Y. S., Gokcay, G., Okubo, M.
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<strong>Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.</strong>
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J. Hum. Genet. 54: 681-686, 2009.
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[<a href="https://doi.org/10.1038/jhg.2009.100" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0611" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.1553207" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp128" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10038-006-0045-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1005572906807" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10347" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/bbrc.1996.1055" target="_blank">Full Text</a>]
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<strong>A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-to-G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.</strong>
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[<a href="https://doi.org/10.1007/s004390050646" target="_blank">Full Text</a>]
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<strong>Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.</strong>
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[<a href="https://doi.org/10.1002/1096-8628(20000731)93:3<211::aid-ajmg10>3.0.co;2-z" target="_blank">Full Text</a>]
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Okubo, M., Horinishi, A., Takeuchi, M., Suzuki, Y., Sakura, N., Hasegawa, Y., Igarashi, T., Goto, K., Tahara, H., Uchimoto, S., Omichi, K., Kanno, H., Hayasaka, K., Murase, T.
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[<a href="https://doi.org/10.1007/s004390051017" target="_blank">Full Text</a>]
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<strong>Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. (Abstract)</strong>
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU15>3.0.CO;2-0" target="_blank">Full Text</a>]
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<strong>A single-base deletion in the 3-prime coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.</strong>
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[<a href="https://doi.org/10.1038/sj.ejhg.5200632" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/mgme.1999.2953" target="_blank">Full Text</a>]
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<strong>A nonsense mutation due to a single base insertion in the 3-prime-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.</strong>
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755644" 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/JCI118799" 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="18" class="mim-anchor"></a>
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<a id="Yang1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, B. Z., Ding, J. H., Enghild, J. J., Bao, Y., Chen, Y. T.
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<strong>Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.</strong>
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J. Biol. Chem. 267: 9294-9299, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1374391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1374391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1374391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Yang1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, B.-Z., Ding, J.-H., Bao, Y., Eason, J. F. M., Chen, Y.-T.
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<strong>Molecular basis of the enzymatic variability in type III glycogen storage disease (GSD-III). (Abstract)</strong>
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Am. J. Hum. Genet. 51 (suppl.): A28, 1992.
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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="20" class="mim-anchor"></a>
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<a id="Yang-Feng1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang-Feng, T. L., Zheng, K., Yu, J., Yang, B.-Z., Chen, Y.-T., Kao, F.-T.
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<strong>Assignment of the human glycogen debrancher gene to chromosome 1p21.</strong>
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Genomics 13: 931-934, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1505983" 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(92)90003-b" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/10/2010
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 2/24/2010<br>Patricia A. Hartz - updated : 11/2/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 3/19/2007
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</span>
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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 : 09/18/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 07/22/2015<br>mcolton : 7/21/2015<br>carol : 4/29/2014<br>mcolton : 4/25/2014<br>wwang : 6/11/2010<br>ckniffin : 6/10/2010<br>wwang : 2/26/2010<br>terry : 2/24/2010<br>mgross : 11/2/2007<br>mgross : 11/2/2007<br>terry : 11/2/2007<br>carol : 3/22/2007<br>ckniffin : 3/21/2007
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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> 610860
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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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AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL
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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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GLYCOGEN DEBRANCHER ENZYME; GDE
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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: AGL</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1p21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:99,849,258-99,924,023 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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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>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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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="2">
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<span class="mim-font">
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1p21.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Glycogen storage disease IIIa
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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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232400
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Glycogen storage disease IIIb
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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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232400
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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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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<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>The AGL gene encodes the glycogen debrancher enzyme, a large monomeric protein with a molecular mass of approximately 160 kD. The enzyme has 2 catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25). The 2 activities are determined at separate catalytic sites on the polypeptide chain and can function independently of each other. Both activities and glycogen binding are required for complete function (Shen et al., 1996; Endo et al., 2006). </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>Yang et al. (1992, 1992) isolated a full-length cDNA corresponding to the human muscle glycogen debranching enzyme. The deduced 1,532-residue protein has a molecular mass of approximately 173 kD. Northern blot analysis detected a 7-kb mRNA transcript. The liver mRNA sequence is identical to the muscle sequence for most of the length, except for the 5-prime end in which the liver sequence diverges completely from the muscle sequence, beginning with the putative transcription initiation site to the ninth nucleotide upstream of the translation initiation codon. Thus, the muscle and liver isoforms are generated via differential RNA transcription, with an alternative first exon usage, from a single gene. Shen et al. (1997) cited their unpublished data indicating that 17 additional amino acids precede the N terminus of the AGL gene sequence published by Yang et al. (1992). </p><p>Bao et al. (1996) stated that there are at least 6 isoforms of AGL produced by alternative splicing. The major isoform, isoform 1, begins transcription at exon 1 and begins translation at exon 3. Muscle-specific isoforms (2, 3, and 4) begin transcription at exon 2. Minor isoforms (5 and 6) begin further within the gene. Reporter assays revealed that promoter region 1 (for isoform 1) was functional in liver, muscle, and ovary, while promoter region 2 (for isoforms 2, 3, and 4) was active only in muscle cells. The authors concluded that the human AGL gene contains at least 2 promoter regions that confer differential expression of isoform mRNAs in a tissue-specific manner. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cheng et al. (2007) showed that malin (NHLRC1; 608072), an E3 ubiquitin ligase mutated in Lafora disease (254780), interacted with mouse Agl and promoted its ubiquitination. Transfection studies in HepG2 cells showed that Agl was cytoplasmic, whereas malin was predominantly nuclear. However, after depletion of glycogen stores, about 90% of transfected cells exhibited partial nuclear Agl staining. Elevation of cAMP increased malin levels and malin/Agl complex formation. Refeeding mice for 2 hours after overnight fasting reduced hepatic Agl levels by 48%. Cheng et al. (2007) concluded that binding of glycogen regulates the stability of AGL and that ubiquitination of AGL may play a role in the pathophysiology of both Lafora disease and Cori disease (232400). </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>Bao et al. (1996) determined that the AGL gene is encoded by 35 exons spanning 85 kb of genomic DNA. </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Yang-Feng et al. (1992) mapped the AGL gene to chromosome 1p21 by somatic cell hybrid analysis and in situ hybridization. </p>
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>In 3 unrelated patients with glycogen storage disease IIIb (GSD3B; 232400), Shen et al. (1996) identified homozygous or compound heterozygous mutations in the AGL gene (see, e.g., 610860.0002-610860.0004). One of the mutations (c.17_18delAG; 610860.0004) was found in 8 of 10 additional GSD IIIb patients. Mutations in exon 3 were present in 12 of 13 GSD IIIb patients, suggesting a specific association. </p><p>Shen et al. (1997) identified a homozygous mutation in the AGL gene (610860.0001) in a child with an unusually severe GSD IIIa (GSD3A; 232400) phenotype. </p><p>Okubo et al. (1998) identified a homozygous mutation in the AGL gene (610860.0006) in a Japanese patient with GSD IIIb. </p><p>Hadjigeorgiou et al. (1999) reported 4 adult Italian patients with GSD IIIa. All of the patients had a history of infantile hepatomegaly followed by myopathy in their twenties. AGL activity and protein were almost absent in muscle specimens. RT-PCR revealed truncated muscle AGL cDNA in all 4 patients due to skipping of different exons. Hadjigeorgiou et al. (1999) commented that the AGL gene mutations described to date account for less than half of the total mutant alleles. </p><p>In Japan, Okubo et al. (2000) investigated 8 Japanese GSD IIIa patients from 7 families and identified 7 mutations, including 1 splicing mutation (610860.0007) that they had previously reported (Okubo et al., 1996), together with 6 novel ones. </p><p>Shaiu et al. (2000) reported 2 frequent mutations, each of which was found in the homozygous state in multiple patients, and each of which was associated with a subset of clinical phenotype in those patients with that mutation. One mutation, IVS32-12A-G (610860.0006), was identified in homozygosity in a confirmed GSD IIIa Caucasian patient who presented with mild clinical symptoms. This mutation had an allele frequency of approximately 5.5% in GSD III patients tested. The other common mutation, 3964delT (610860.0010), was identified in an African American patient who had a severe phenotype and early onset of clinical symptoms. The mutation was later identified in several other patients and was observed at a frequency of approximately 6.7%. Together, these 2 mutations can account for more than 12% of the molecular defects in GSD III patients. Shaiu et al. (2000) also identified 6 additional mutations and reviewed the nonmutation state. </p><p>Lucchiari et al. (2002) identified 7 novel mutations of the AGL gene in patients with GSD IIIa in the Mediterranean area. </p><p>Endo et al. (2006) identified 9 different mutations in the AGL gene, including 6 novel mutations, among 9 patients with GSD III. The patients were from Germany, Canada, Afghanistan, Iran, and Turkey. </p><p>Aoyama et al. (2009) identified 10 different AGL mutations, including 8 novel mutations (see, e.g., 610860.0014 and 610860.0015), in 23 Turkish patients with GSD III, including GSD type IIIc (GSD3C; 232400). No genotype/phenotype correlations were observed. </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>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Cheng et al. (2009) studied 4 rare AGL mutations, including G1448R (610860.0009), to determine the molecular basis of GSD III pathogenesis. The L620P mutation primarily abolished transferase activity in transfected cells, whereas the R1147G (610860.0014) mutation only impaired glucosidase function. The R1448R and Y1445ins mutations in the carbohydrate-binding domain (CBD) were more severe in nature, leading to significant loss of all enzymatic activities and carbohydrate binding ability, as well as enhancing targeting for proteasomal degradation. Cheng et al. (2009) concluded that inactivation of either enzymatic activity is sufficient to cause GSD III disease, and suggested that the CBD of AGL may play a major role to coordinate its functions and regulation by the ubiquitin-proteasome system. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
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|
|
</div>
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|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>15 Selected Examples):</strong>
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</span>
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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|
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|
<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GLYCOGEN STORAGE DISEASE, TYPE IIIa</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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|
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|
AGL, 1-BP INS, 4529A
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|
<br />
|
|
|
|
SNP: rs387906244,
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|
|
|
|
|
|
|
ClinVar: RCV000001152, RCV000169573, RCV001265666
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with an unusually severe phenotype of glycogen storage disease type IIIa (GSD3A; 232400) manifested in both liver and muscle, Shen et al. (1997) identified a homozygous 1-bp insertion (4529insA) in the 3-prime coding region of the AGL gene. The mutation created a termination codon at residue 1510 of their sequence. (They stated that amino acid residue 1510 in their study corresponded to residue 1493 of the Yang et al. (1992) sequence.) The child had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly, and died at 4 years of age. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
</div>
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|
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|
<div>
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|
<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLYCOGEN STORAGE DISEASE, TYPE IIIb</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
AGL, GLN6TER
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|
<br />
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|
|
SNP: rs113994126,
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|
|
|
|
|
gnomAD: rs113994126,
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|
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|
|
ClinVar: RCV000001153, RCV000020373, RCV000675315
|
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|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 41-year-old patient with hepatic glycogen storage disease type III (GSD3B; 232400), but with no clinical or laboratory evidence of myopathy or cardiomyopathy, Shen et al. (1996) demonstrated compound heterozygosity for 2 mutations in the AGL gene: a 16C-T transition, resulting in a gln6-to-ter (Q6X) substitution and W680X (610860.0003). </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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|
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|
<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLYCOGEN STORAGE DISEASE, TYPE IIIb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, TRP680TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113994129,
|
|
|
|
|
|
gnomAD: rs113994129,
|
|
|
|
|
|
ClinVar: RCV000001154, RCV000020375, RCV000578784
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 41-year-old patient with hepatic glycogen storage disease type III (GSD3B; 232400), but with no clinical or laboratory evidence of myopathy or cardiomyopathy, Shen et al. (1996) demonstrated compound heterozygosity for 2 mutations in the AGL gene: a 2039G-A transition, resulting in a trp680-to-ter (W680X) substitution, and Q6X (610860.0002). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GLYCOGEN STORAGE DISEASE, TYPE IIIb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, 2-BP DEL, 17AG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113994127,
|
|
|
|
|
|
gnomAD: rs113994127,
|
|
|
|
|
|
ClinVar: RCV000001155, RCV000175637, RCV000723819, RCV004745253
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 10 of 13 patients with GSD IIIb (GSD3B; 232400), Shen et al. (1996) identified a 2-bp deletion (c.17_18delAG) in the AGL gene, resulting in a truncated protein. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLYCOGEN STORAGE DISEASE, TYPE IIIa</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, 1-BP DEL, 4455T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113994134,
|
|
|
|
|
|
|
|
ClinVar: RCV000001156, RCV000177731, RCV000723822, RCV004745137
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 13 patients with GSD III (GSD3A; 232400) from 11 families, Parvari et al. (1997) identified a homozygous 1-bp deletion (4455delT) in exon 34 of the AGL gene, resulting in a frameshift and truncation of the last 30 amino acid residues of the protein. All patients were of North African Jewish descent and had liver and muscle involvement. While all patients showed the characteristic features related to the liver enzyme deficiency, the peripheral muscular impairment varied from minimal to severe, with neuromuscular involvement. The mutation appeared to be ethnic-specific as it was not seen in 18 patients of different ethnic origins. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLYCOGEN STORAGE DISEASE, TYPE IIIb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
GLYCOGEN STORAGE DISEASE, TYPE IIIa, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, IVS32AS, A-G, -12
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113994133, rs369973784,
|
|
|
|
|
|
gnomAD: rs369973784,
|
|
|
|
|
|
ClinVar: RCV000001157, RCV000001158, RCV000020379, RCV000675344, RCV003407251
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 31-year-old Japanese female with GSD type IIIb (GSD3B; 232400), Okubo et al. (1998) detected a homozygous A-to-G transition in the AGL gene 12 bp upstream of exon 33 that caused activation of a cryptic splice site and insertion of an extra 11 bp of intronic sequence between exons 32 and 33. The mutation was predicted to change the last 15 consecutive C-terminal amino acids before premature termination at codon 1436 and loss of 112 terminal amino acids. The patient's parents were first cousins. </p><p>Shaiu et al. (2000) identified this mutation in homozygosity in a GSD type IIIa (GSD3A; 232400) Caucasian patient presenting with mild clinical symptoms. They found that the IVS32-12A-G mutation had an allelic frequency of about 5.5% in the GSD III patients tested. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLYCOGEN STORAGE DISEASE, TYPE IIIa</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, IVS14DS, G-T, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199922945,
|
|
|
|
|
|
gnomAD: rs199922945,
|
|
|
|
|
|
ClinVar: RCV000001159, RCV000169137
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese man with glycogen storage disease type IIIa (GSD3A; 232400), Okubo et al. (1996) reported heterozygosity for a 124-bp deletion in the AGL gene, corresponding to a single exon. The deletion resulted from a G-to-T transversion at the donor splice site immediately downstream of the deletion. The mutation was predicted to result in a truncated enzyme. This was the first mutation in the AGL gene identified in a patient with GSD III. The patient was a 43-year-old Japanese man who had been diagnosed with GSD III at 18 years of age. He had hepatomegaly and muscle weakness. Family history showed no consanguinity. The patient's asymptomatic father and son were also heterozygous for the mutation. Southern blot analysis of the patient's genomic DNA showed an additional, unique EcoRI fragment of 5.8 kb, inherited from the mother (610860.0008). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GLYCOGEN STORAGE DISEASE, TYPE IIIa</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, EcoRI FRAGMENT INS
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000001160
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 610860.0007 and Okubo et al. (1996). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GLYCOGEN STORAGE DISEASE, TYPE IIIa</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, GLY1448ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118203964,
|
|
|
|
|
|
|
|
ClinVar: RCV000001161
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient, born from a consanguineous family, with GSD IIIa (GSD3A; 232400), Okubo et al. (1999) identified a homozygous 4742G-C transversion in exon 33 of the AGL gene, resulting in a gly1448-to-arg (G1448R) substitution in a putative glycogen-binding site that is indispensable for enzyme activity. The authors claimed that this was the first report of a missense mutation associated with GSD III. </p><p>Cheng et al. (2007) showed that mouse Agl with the G1448R mutation was unable to bind glycogen and displayed decreased stability that was rescued by proteasome inhibition. Agl G1148R was more highly ubiquitinated than wildtype Agl. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 GLYCOGEN STORAGE DISEASE, TYPE IIIa</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, 1-BP DEL, 3964T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113994132,
|
|
|
|
|
|
gnomAD: rs113994132,
|
|
|
|
|
|
ClinVar: RCV000001162, RCV000020378, RCV000723821
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 25-year-old African American female with GSD IIIa (GSD3A; 232400), Shaiu et al. (2000) identified a homozygous 1-bp deletion (3964delT) in the AGL gene. She presented with hepatomegaly, symptomatic hypoglycemia, and failure to thrive at 1 year of age. Muscle involvement as truncal hypotonia and proximal upper and lower extremity weakness were noted since 7 years of age, with CPK values ranging from 300 to 1,000 IU. At 25 years of age, progressive myopathy, hepatomegaly, and repeated episodes of hypoglycemia were apparent. This mutation was subsequently identified in homozygosity in several patients with similar presentation and had an overall frequency of around 6.7% in the GSD III patients tested. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 GLYCOGEN STORAGE DISEASE, TYPE IIIb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, 1-BP DEL, 2399C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906246,
|
|
|
|
|
|
|
|
ClinVar: RCV000001163
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old patient of mixed Asian ancestry with glycogen storage disease type IIIb (GSD3B; 232400), Okubo et al. (2000) observed compound heterozygosity for 2 mutations in the AGL gene: a deletion of 2399C in exon 16 inherited from the Japanese father, and a G-to-A transition at position +5 at the donor splice site of intron 33 (610860.0012) inherited from the Chinese mother. The girl had been admitted to hospital because of liver dysfunction. Hepatomegaly was first noted at age 4 months. She had experienced occasional hypoglycemia, and growth retardation was noted. Muscular manifestations were not described. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 GLYCOGEN STORAGE DISEASE, TYPE IIIb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, IVS33DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs780504025,
|
|
|
|
|
|
gnomAD: rs780504025,
|
|
|
|
|
|
ClinVar: RCV000001164, RCV000991301, RCV001558704
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the AGL gene that was found in compound heterozygous state in a patient with glycogen storage disease type IIIb (GSD3B; 232400) by Okubo et al. (2000), see 610860.0011. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 GLYCOGEN STORAGE DISEASE, TYPE IIIa</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AGL, ARG408TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113994128,
|
|
|
|
|
|
gnomAD: rs113994128,
|
|
|
|
|
|
ClinVar: RCV000001165, RCV000020372, RCV001582458
|
|
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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 6 children from 5 families with GSD IIIa (GSD3A; 232400) from the Faroe Islands, Santer et al. (2001) identified a homozygous 1222C-T transition in the AGL gene, resulting in an arg408-to-ter substitution (R408X). All patients were homozygous for the same haplotype defined by 5 intragenic polymorphisms, supporting a founder effect. The R408X mutation was also detected in compound heterozygosity in 2 of 50 GSD IIIa patients of other European or North American origin. Whereas the mutation was not detected in 198 German newborns, 9 of 272 Faroese newborns were heterozygous, predicting a carrier frequency of 1 in 30 and a calculated prevalence of 1 per 3,600 in the Faroese population. The population of 45,000 of this small archipelago in the North Atlantic has its roots in the colonization by Norwegians in the 8th century and throughout the Viking Age. Santer et al. (2001) concluded that due to a founder effect, the Faroe Islands have the highest prevalence of GSD IIIa worldwide. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0014 GLYCOGEN STORAGE DISEASE, TYPE IIIc</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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AGL, ARG1147GLY
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<br />
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SNP: rs267606639,
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ClinVar: RCV000001166
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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 14-year-old Turkish girl with isolated glucosidase deficiency, known as glycogen storage disease type IIIc (GSD3C; 232400), Aoyama et al. (2009) identified a homozygous 3439A-G transition in exon 27 of the AGL gene, resulting in an arg1147-to-gly (R1147G) substitution in a conserved residue in the C-terminal region. The patient had mild hepatomegaly, but did not have hypoglycemia or clinical muscle involvement. Cheng et al. (2009) showed that the R1147G-mutant protein lost glucosidase activity, but retained 40% of transferase activity compared to wildtype. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0015 GLYCOGEN STORAGE DISEASE, TYPE IIIa</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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AGL, TRP1327TER
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<br />
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SNP: rs267606640,
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gnomAD: rs267606640,
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ClinVar: RCV000001167, RCV000333868, RCV000435914
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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 6 Turkish patients with glycogen storage disease type IIIa (GSD3A; 232400), Aoyama et al. (2009) identified a homozygous 3980G-A transition in exon 31 of the AGL gene, resulting in a trp1327-to-ter (W1327X) substitution. All 6 patients were from 2 cities in the eastern Black Sea region, and haplotype analysis indicated a founder effect. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aoyama, Y., Ozer, I., Demirkol, M., Ebara, T., Murase, T., Podskarbi, T., Shin, Y. S., Gokcay, G., Okubo, M.
|
|
<strong>Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.</strong>
|
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J. Hum. Genet. 54: 681-686, 2009.
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[PubMed: 19834502]
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[Full Text: https://doi.org/10.1038/jhg.2009.100]
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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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Bao, Y., Dawson, T. L., Jr., Chen, Y.-T.
|
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<strong>Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5-prime flanking region.</strong>
|
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Genomics 38: 155-165, 1996.
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[PubMed: 8954797]
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[Full Text: https://doi.org/10.1006/geno.1996.0611]
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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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Cheng, A., Zhang, M., Gentry, M. S., Worby, C. A., Dixon, J. E., Saltiel, A. R.
|
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<strong>A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.</strong>
|
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Genes Dev. 21: 2399-2409, 2007.
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[PubMed: 17908927]
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[Full Text: https://doi.org/10.1101/gad.1553207]
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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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Cheng, A., Zhang, M., Okubo, M., Omichi, K., Saltiel, A. R.
|
|
<strong>Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.</strong>
|
|
Hum. Molec. Genet. 18: 2045-2052, 2009.
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[PubMed: 19299494]
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[Full Text: https://doi.org/10.1093/hmg/ddp128]
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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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Endo, Y., Horinishi, A., Vorgerd, M., Aoyama, Y., Ebara, T., Murase, T., Odawara, M., Podskarbi, T., Shin, Y. S., Okubo, M.
|
|
<strong>Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.</strong>
|
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J. Hum. Genet. 51: 958-963, 2006.
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[PubMed: 17047887]
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[Full Text: https://doi.org/10.1007/s10038-006-0045-x]
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<li>
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<p class="mim-text-font">
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Hadjigeorgiou, G. M., Comi, G. P., Bordoni, A., Shen, J., Chen, Y.-T., Salani, S., Toscano, A., Fortunato, F., Lucchiari, S., Bresolin, N., Rodolico, C., Piscaglia, M. G., Franceschina, L., Papadimitriou, A., Scarlato, G.
|
|
<strong>Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.</strong>
|
|
J. Inherit. Metab. Dis. 22: 762-763, 1999.
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[PubMed: 10472540]
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[Full Text: https://doi.org/10.1023/a:1005572906807]
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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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Lucchiari, S., Fogh, I., Prelle, A., Parini, R., Bresolin, N., Melis, D., Fiori, L., Scarlato, G., Comi, G. P.
|
|
<strong>Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.</strong>
|
|
Am. J. Med. Genet. 109: 183-190, 2002.
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|
|
[PubMed: 11977176]
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[Full Text: https://doi.org/10.1002/ajmg.10347]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Okubo, M., Aoyama, Y., Murase, T.
|
|
<strong>A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.</strong>
|
|
Biochem. Biophys. Res. Commun. 224: 493-499, 1996. Note: Erratum: Biochem. Biophys. Res. Commun. 225: 695 only, 1996.
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[PubMed: 8702417]
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[Full Text: https://doi.org/10.1006/bbrc.1996.1055]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Okubo, M., Horinishi, A., Makamura, N., Aoyama, Y., Hashimoto, M., Endo, Y., Murase, T.
|
|
<strong>A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-to-G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.</strong>
|
|
Hum. Genet. 102: 1-5, 1998.
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|
|
[PubMed: 9490286]
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[Full Text: https://doi.org/10.1007/s004390050646]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Okubo, M., Horinishi, A., Suzuki, Y., Murase, T., Hayasaka, K.
|
|
<strong>Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.</strong>
|
|
Am. J. Med. Genet. 93: 211-214, 2000.
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|
[PubMed: 10925384]
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[Full Text: https://doi.org/10.1002/1096-8628(20000731)93:3<211::aid-ajmg10>3.0.co;2-z]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Okubo, M., Horinishi, A., Takeuchi, M., Suzuki, Y., Sakura, N., Hasegawa, Y., Igarashi, T., Goto, K., Tahara, H., Uchimoto, S., Omichi, K., Kanno, H., Hayasaka, K., Murase, T.
|
|
<strong>Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.</strong>
|
|
Hum. Genet. 106: 108-115, 2000.
|
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|
|
[PubMed: 10982190]
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[Full Text: https://doi.org/10.1007/s004390051017]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Okubo, M., Kanda, F., Horinishi, A., Takahashi, K., Okuda, S., Chihara, K., Murase, T.
|
|
<strong>Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. (Abstract)</strong>
|
|
Hum. Mutat. 14: 542-543, 1999.
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|
|
[PubMed: 10571954]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU15>3.0.CO;2-0]
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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., Moses, S., Shen, J., Hershkovitz, E., Lerner, A., Chen, Y.-T.
|
|
<strong>A single-base deletion in the 3-prime coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.</strong>
|
|
Europ. J. Hum. Genet. 5: 266-270, 1997.
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|
[PubMed: 9412782]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Santer, R., Kinner, M., Steuerwald, U., Kjaergaard, S., Skovby, F., Simonsen, H., Shaiu, W.-L., Chen, Y.-T., Schneppenheim, R., Schaub, J.
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<strong>Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.</strong>
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Europ. J. Hum. Genet. 9: 388-391, 2001.
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[PubMed: 11378828]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200632]
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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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Shaiu, W.-L., Kishnani, P. S., Shen, J., Liu, H.-M., Chen, Y.-T.
|
|
<strong>Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.</strong>
|
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Molec. Genet. Metab. 69: 16-23, 2000.
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[PubMed: 10655153]
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[Full Text: https://doi.org/10.1006/mgme.1999.2953]
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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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Shen, J,, Bao, Y., Chen, Y.-T.
|
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<strong>A nonsense mutation due to a single base insertion in the 3-prime-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.</strong>
|
|
Hum. Mutat. 9: 37-40, 1997.
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[PubMed: 8990006]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M]
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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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Shen, J., Bao, Y., Liu, H.-M., Lee, P., Leonard, J. V., Chen, Y.-T.
|
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<strong>Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.</strong>
|
|
J. Clin. Invest. 98: 352-357, 1996.
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[PubMed: 8755644]
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[Full Text: https://doi.org/10.1172/JCI118799]
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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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Yang, B. Z., Ding, J. H., Enghild, J. J., Bao, Y., Chen, Y. T.
|
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<strong>Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.</strong>
|
|
J. Biol. Chem. 267: 9294-9299, 1992.
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[PubMed: 1374391]
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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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Yang, B.-Z., Ding, J.-H., Bao, Y., Eason, J. F. M., Chen, Y.-T.
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<strong>Molecular basis of the enzymatic variability in type III glycogen storage disease (GSD-III). (Abstract)</strong>
|
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Am. J. Hum. Genet. 51 (suppl.): A28, 1992.
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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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Yang-Feng, T. L., Zheng, K., Yu, J., Yang, B.-Z., Chen, Y.-T., Kao, F.-T.
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<strong>Assignment of the human glycogen debrancher gene to chromosome 1p21.</strong>
|
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Genomics 13: 931-934, 1992.
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[PubMed: 1505983]
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[Full Text: https://doi.org/10.1016/0888-7543(92)90003-b]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/10/2010<br>George E. Tiller - updated : 2/24/2010<br>Patricia A. Hartz - updated : 11/2/2007
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</span>
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</div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 3/19/2007
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<span class="text-nowrap mim-text-font">
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Edit History:
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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 : 09/18/2020<br>alopez : 07/22/2015<br>mcolton : 7/21/2015<br>carol : 4/29/2014<br>mcolton : 4/25/2014<br>wwang : 6/11/2010<br>ckniffin : 6/10/2010<br>wwang : 2/26/2010<br>terry : 2/24/2010<br>mgross : 11/2/2007<br>mgross : 11/2/2007<br>terry : 11/2/2007<br>carol : 3/22/2007<br>ckniffin : 3/21/2007
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