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Entry
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- *300798 - PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2
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- OMIM
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<p>
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<span class="h4">*300798</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</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/300798">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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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 panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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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 id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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="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=ENSG00000044446;t=ENST00000379942" 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=5256" 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=300798" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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=ENSG00000044446;t=ENST00000379942" 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_000292,XM_005274548,XM_005274550,XM_006724496,XM_011545537,XM_011545538,XM_017029580,XM_047442163,XM_047442164,XM_047442165,XM_047442166,XR_001755697,XR_950461" 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_000292" 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=300798" 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=02380&isoform_id=02380_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/PHKA2" 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/663010,1170685,1217901,3157392,3157395,4376035,4505781,4903263,15559343,119619357,158261015,530421168,530421172,578837914,768032518,768032524,1034674505,2217392651,2217392653,2217392655,2217392659,2318748017,2462629740,2462629742,2462629744,2462629746,2462629748,2462629750,2462629752,2462629756,2462629758,2462629760" 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/P46019" 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=5256" 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=ENSG00000044446;t=ENST00000379942" 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=PHKA2" 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=PHKA2" 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+5256" 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/PHKA2" 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:5256" 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/5256" 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=chrX&hgg_gene=ENST00000379942.5&hgg_start=18892298&hgg_end=18984114&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://medlineplus.gov/genetics/gene/phka2" 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=300798[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=300798[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PHKA2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000044446" 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.gwascentral.org/search?q=PHKA2" 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=PHKA2" 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=PHKA2&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/PA33267" 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:8926" 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/FBgn0030087.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:97577" 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/PHKA2#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:97577" 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/5256/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=5256" 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=WBGene00015754;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-130422-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5256" 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=PHKA2&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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300798
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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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PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PHKA2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PHKA2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/X/102?start=-3&limit=10&highlight=102">Xp22.13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:18892298-18984114&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'})">X:18,892,298-18,984,114</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/102?start=-3&limit=10&highlight=102">
|
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Xp22.13
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Glycogen storage disease, type IXa1
|
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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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<a href="/entry/306000"> 306000 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Glycogen storage disease, type IXa2
|
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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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<a href="/entry/306000"> 306000 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300798" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300798" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<p>The PHKA2 gene on chromosome Xp22 encodes the alpha subunit of hepatic phosphorylase kinase (PHK; <a href="https://enzyme.expasy.org/EC/2.7.11.19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.11.19</a>). Hepatic phosphorylase kinase is a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB, <a href="/entry/172490">172490</a>), gamma (PHKG2, (<a href="/entry/172471">172471</a>)), and delta. The delta subunit can be encoded by 3 different genes (CALM1, <a href="/entry/114180">114180</a>; CALM2, <a href="/entry/114182">114182</a>; or CALM3, <a href="/entry/114183">114183</a>). The PHKA1 (<a href="/entry/311870">311870</a>) and PHKG1 (<a href="/entry/172470">172470</a>) genes encode the alpha and gamma subunits, respectively, of muscle phosphorylase kinase; the beta subunit is the same in both isoforms. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit, which encodes calmodulin, mediates the dependence of the enzyme on calcium concentration (<a href="#1" class="mim-tip-reference" title="Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M. <strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong> Molec. Genet. Metab. 92: 88-99, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689125</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689125">Beauchamp et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17689125" 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="Davidson, J. J., Ozcelik, T., Hamacher, C., Willems, P. J., Francke, U., Kilimann, M. W. <strong>cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.</strong> Proc. Nat. Acad. Sci. 89: 2096-2100, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372435</a>] [<a href="https://doi.org/10.1073/pnas.89.6.2096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372435">Davidson et al. (1992)</a> isolated clones corresponding to the Phka2 gene from a rabbit cDNA library. The deduced 1,235-residue protein showed 68% sequence similarity to the rabbit Phka1 gene. The placement of nucleotide and residue differences indicated that Phka1 and Phka2 are encoded by 2 separate genes, rather than being generated by alternative splicing of a single gene. Northern blot analysis identified a 4.3-kb mRNA Phka2 transcript with high expression in liver and brain, but not in muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372435" 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>Hendrickx et al. (<a href="#11" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Raeymaekers, P., Willems, P. J. <strong>X-linked liver glycogenosis: localization and isolation of a strong candidate gene. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A190 only, 1992."None>1992</a>, <a href="#8" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Bossuyt, P., Wauters, J., Raeymaekers, P., Marchau, F., Smit, G. P. A., Stolte, I., Sardharwalla, I. B., Berthelot, J., Van den Bergh, I., Berger, R., Van Broeckhoven, C., Baussan, C., Wapenaar, M., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis: localization and isolation of a candidate gene.</strong> Hum. Molec. Genet. 2: 583-589, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8518797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8518797</a>] [<a href="https://doi.org/10.1093/hmg/2.5.583" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8518797">1993</a>) isolated a clone for the human PHKA2 gene from a human hepatoma cDNA library. The protein showed 93.5% homology to the rabbit protein. Two calmodulin binding sites identified in rabbit Phka1 are highly conserved in rabbit and human PHKA2. Differential splicing was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8518797" 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>Using the rabbit Phka2 gene, <a href="#4" class="mim-tip-reference" title="Davidson, J. J., Ozcelik, T., Hamacher, C., Willems, P. J., Francke, U., Kilimann, M. W. <strong>cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.</strong> Proc. Nat. Acad. Sci. 89: 2096-2100, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372435</a>] [<a href="https://doi.org/10.1073/pnas.89.6.2096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372435">Davidson et al. (1992)</a> mapped the human homolog, PHKA2, to chromosome Xp22.2-p22.1. By in situ hybridization, <a href="#21" class="mim-tip-reference" title="Wauters, J. G., Bossuyt, P. J., Davidson, J., Hendrickx, J., Kilimann, M. W., Willems, P. J. <strong>Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.</strong> Cytogenet. Cell Genet. 60: 194-196, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505214</a>] [<a href="https://doi.org/10.1159/000133334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1505214">Wauters et al. (1992)</a> demonstrated that the PHKA2 gene is located in the distal part of Xp in the same region as the mutation for X-linked liver glycogenosis (GSD IXa; <a href="/entry/306000">306000</a>). By fluorescence in situ hybridization, Hendrickx et al. (<a href="#11" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Raeymaekers, P., Willems, P. J. <strong>X-linked liver glycogenosis: localization and isolation of a strong candidate gene. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A190 only, 1992."None>1992</a>, <a href="#8" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Bossuyt, P., Wauters, J., Raeymaekers, P., Marchau, F., Smit, G. P. A., Stolte, I., Sardharwalla, I. B., Berthelot, J., Van den Bergh, I., Berger, R., Van Broeckhoven, C., Baussan, C., Wapenaar, M., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis: localization and isolation of a candidate gene.</strong> Hum. Molec. Genet. 2: 583-589, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8518797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8518797</a>] [<a href="https://doi.org/10.1093/hmg/2.5.583" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8518797">1993</a>) mapped the human PHKA2 gene to Xp22. It is noteworthy that PHKA1 and PHKA2 are located on Xq and Xp, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1505214+1372435+8518797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the mouse, <a href="#19" class="mim-tip-reference" title="Ryder-Cook, A. S., Derry, J. M. J., Barnard, P. J. <strong>Localization of the phosphorylase kinase alpha subunit gene on the mouse X chromosome. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1071-1072, 1989."None>Ryder-Cook et al. (1989)</a> mapped the alpha subunit of phosphorylase kinase to the X chromosome. They noted that the beta, gamma, and delta subunits are autosomal.</p>
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<p><a href="#13" class="mim-tip-reference" title="Hendrickx, J., Lee, P., Keating, J. P., Carton, D., Sardharwalla, I. B., Tuchman, M., Baussan, C., Willems, P. J. <strong>Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II.</strong> Am. J. Hum. Genet. 64: 1541-1549, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330341</a>] [<a href="https://doi.org/10.1086/302399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330341">Hendrickx et al. (1999)</a> determined that the human PHKA2 gene contains 33 exons and spans 65 kb or more. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330341" 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 patients with X-linked hepatic glycogen storage disease (GSD9A; see <a href="/entry/306000">306000</a>), <a href="#9" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J. <strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong> Hum. Molec. Genet. 4: 77-83, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711737</a>] [<a href="https://doi.org/10.1093/hmg/4.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711737">Hendrickx et al. (1995)</a> identified 4 different mutations in the PHKA2 gene (<a href="#0001">300798.0001</a>-<a href="#0004">300798.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711737" 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="#20" class="mim-tip-reference" title="van den Berg, I. E. T., van Beurden, E. A. C. M., Malingre, H. E. M., Ploos van Amstel, H. K., Poll-The, B. T., Smeitink, J. A. M., Lamers, W. H., Berger, R. <strong>X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.</strong> Am. J. Hum. Genet. 56: 381-387, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847371</a>]" pmid="7847371">Van den Berg et al. (1995)</a> identified mutations in the PHKA2 gene (<a href="#0005">300798.0005</a> and <a href="#0006">300798.0006</a>) in affected members of 2 Dutch families with GSD IXa1. One of the families had been reported by <a href="#14" class="mim-tip-reference" title="Huijing, F., Fernandes, J. <strong>X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.</strong> Am. J. Hum. Genet. 21: 275-284, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5306139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5306139</a>]" pmid="5306139">Huijing and Fernandes (1969)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7847371+5306139" 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="Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W. <strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong> Hum. Molec. Genet. 5: 653-658, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>] [<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733134">Burwinkel et al. (1996)</a> identified mutations in the PHKA2 gene in patients with GSD IXa2 (<a href="/entry/306000#0007">306000.0007</a>-<a href="/entry/306000#0010">306000.0010</a>). The mutations appeared to cluster in limited sequence regions. <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W. <strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong> Hum. Molec. Genet. 5: 653-658, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>] [<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733134">Burwinkel et al. (1996)</a> stressed that the clustering of GSD IXa2 mutations would further facilitate analysis by RT-PCR of blood cell mRNA and thus help avoid liver biopsy in the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese boy with classic GSD IXa2, <a href="#6" class="mim-tip-reference" title="Fukao, T., Zhang, G., Aoki, Y., Arai, T., Teramoto, T., Kaneko, H., Sugie, H., Kondo, N. <strong>Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).</strong> Molec. Genet. Metab. 92: 179-182, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17581768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17581768</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.05.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17581768">Fukao et al. (2007)</a> identified a hemizygous 10-kb deletion in the PHKA2 gene, resulting in the deletion of exons 20 to 26. Studies of the breakpoint regions showed that the deletion resulted from Alu element-mediated unequal homologous recombination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17581768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S. <strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong> Molec. Genet. Metab. 113: 171-176, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25266922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25266922</a>] [<a href="https://doi.org/10.1016/j.ymgme.2014.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25266922">Roscher et al. (2014)</a> reported 7 novel mutations in the PHKA2 gene resulting in GSD IXa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25266922" 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 4 unrelated patients with GSD IXa2, <a href="#12" class="mim-tip-reference" title="Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong> Hum. Molec. Genet. 5: 649-652, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733133</a>] [<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733133">Hendrickx et al. (1996)</a> identified 4 different mutations in the PHKA2 gene (<a href="/entry/306000#0011">306000.0011</a>-<a href="/entry/306000#0014">306000.0014</a>). The mutations resulted in minor abnormalities in the primary structure of the protein. These mutations are found in a conserved RXX(X)T motif, resembling known phosphorylation sites that may be involved in the regulation of PHK. <a href="#12" class="mim-tip-reference" title="Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong> Hum. Molec. Genet. 5: 649-652, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733133</a>] [<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733133">Hendrickx et al. (1996)</a> postulated that PHK activity may be regulated by phosphorylation of these sites and that type II GSD9A may be due to impaired activation of PHK activity. The findings may explain why the in vitro PHK enzymatic activity is not deficient in type II, whereas it is in type I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Hendrickx, J., Lee, P., Keating, J. P., Carton, D., Sardharwalla, I. B., Tuchman, M., Baussan, C., Willems, P. J. <strong>Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II.</strong> Am. J. Hum. Genet. 64: 1541-1549, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330341</a>] [<a href="https://doi.org/10.1086/302399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330341">Hendrickx et al. (1999)</a> identified PHKA2 mutations in 10 patients with GSD9A, types I and II. They proposed that mutations in GSD type I, in which PHK activity is decreased in both liver and erythrocytes, results from truncation or disruption of the PHKA2 protein. In contrast, all type II mutations, which result in residual activity in erythrocytes, were missense mutations or small in-frame deletions and insertions. These results suggested that the biochemical differences between the 2 types of GSD IXa are due to the different nature of the disease-causing mutations in PHKA2. Type I mutations may lead to absence of the alpha subunit, which causes an unstable PHK holoenzyme and deficient enzyme activity, whereas type II mutations may lead to in vivo deregulation of PHK, which might be difficult to demonstrate in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>15 Selected Examples</a>):</strong>
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<a href="/allelicVariants/300798" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300798[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852285 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852285;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=rs137852285" 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=rs137852285" 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=RCV000011273" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011273" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011273</a>
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<p>In a Belgian boy with glycogen storage disease IXa1 (GSD9A1; <a href="/entry/306000">306000</a>), <a href="#9" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J. <strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong> Hum. Molec. Genet. 4: 77-83, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711737</a>] [<a href="https://doi.org/10.1093/hmg/4.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711737">Hendrickx et al. (1995)</a> identified a C-to-T transition in exon 8, resulting in a gln1009-to-ter (Q1009X) substitution. This led to a truncated protein that lacked the C terminus, the phosphorylation site, and a putative calmodulin-binding site. The patient had hepatomegaly, elevated liver enzymes, and growth retardation that decreased with puberty. PHK activity was completely absent from erythrocytes and liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 GLYCOGEN STORAGE DISEASE, TYPE IXa1</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">rs137852286 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852286;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=rs137852286" 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=rs137852286" 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=RCV000011274" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011274" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011274</a>
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<p>In a French boy with GSD type IXa1 (GSD9A1; <a href="/entry/306000">306000</a>), <a href="#9" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J. <strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong> Hum. Molec. Genet. 4: 77-83, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711737</a>] [<a href="https://doi.org/10.1093/hmg/4.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711737">Hendrickx et al. (1995)</a> found a C-to-T transition in exon 2 of the PHKA gene, resulting in a gln766-to-ter (Q766X) substitution. This led to a truncated protein that lacked the C terminus, the phosphorylation site, and both putative calmodulin-binding sites. The patient had hepatomegaly, elevated liver enzymes, and growth retardation. Erythrocyte PHK activity was 2% of control values. His mildly affected sister had only hepatomegaly; her erythrocyte PHK activity was 30% of control values. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711737" 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 IXa1</strong>
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PHKA2, IVS7DS, G-T, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776731 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776731;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=rs587776731" 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=rs587776731" 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=RCV000011275" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011275" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011275</a>
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<p>In twin boys from the U.K. with GSD type IXa1 (GSD9A1; <a href="/entry/306000">306000</a>), <a href="#9" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J. <strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong> Hum. Molec. Genet. 4: 77-83, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711737</a>] [<a href="https://doi.org/10.1093/hmg/4.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711737">Hendrickx et al. (1995)</a> found a G-to-T transversion at position +1 of intron 7 of the PHKA2 gene. This resulted in complete skipping of exon 7 and a PHKA2 protein lacking the 34 amino acids of this exon. Both patients had hepatomegaly, growth retardation, and hypertriglyceridemia, but not hypercholesterolemia. Only 1 had increased liver enzymes. Hepatomegaly disappeared in both boys between ages 8 and 10 years. Erythrocyte activity was 8 and 4% of control values, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711737" 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 IXa1</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> rs137852287 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852287;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/rs137852287?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=rs137852287" 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=rs137852287" 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=RCV000011276" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011276" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011276</a>
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<p>In 2 brothers from the U.K. with GSD type IXa1 (GSD9A1; <a href="/entry/306000">306000</a>), <a href="#9" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J. <strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong> Hum. Molec. Genet. 4: 77-83, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711737</a>] [<a href="https://doi.org/10.1093/hmg/4.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711737">Hendrickx et al. (1995)</a> found a C-to-A transversion in exon 11 of the PHKA2 gene, resulting in a ser1049-to-ter (S1049X) substitution and protein lacking more than 180 amino acids of the C terminus, including the 3-prime putative calmodulin binding site. Both patients had growth retardation, hepatomegaly, and elevated liver enzymes. Erythrocyte PHK activity was 5.7 and 16.9% of control values, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711737" 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 IXa1</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">rs137852288 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852288;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=rs137852288" 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=rs137852288" 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=RCV000011277 OR RCV001091309" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011277, RCV001091309" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011277...</a>
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<p>In affected members of a large Dutch family with GSD type IXa1 (GSD9A1; <a href="/entry/306000">306000</a>) previously described by <a href="#14" class="mim-tip-reference" title="Huijing, F., Fernandes, J. <strong>X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.</strong> Am. J. Hum. Genet. 21: 275-284, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5306139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5306139</a>]" pmid="5306139">Huijing and Fernandes (1969)</a> and <a href="#22" class="mim-tip-reference" title="Willems, P. J., Gerver, W. J. M., Berger, R., Fernandes, J. <strong>The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.</strong> Europ. J. Pediat. 149: 268-271, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2303074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2303074</a>] [<a href="https://doi.org/10.1007/BF02106291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2303074">Willems et al. (1990)</a>, <a href="#20" class="mim-tip-reference" title="van den Berg, I. E. T., van Beurden, E. A. C. M., Malingre, H. E. M., Ploos van Amstel, H. K., Poll-The, B. T., Smeitink, J. A. M., Lamers, W. H., Berger, R. <strong>X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.</strong> Am. J. Hum. Genet. 56: 381-387, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847371</a>]" pmid="7847371">van den Berg et al. (1995)</a> found a 3614C-T transition in the PHKA2 gene, resulting in a pro1205-to-leu (P1205L) substitution in a highly conserved region of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7847371+5306139+2303074" 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 IXa1</strong>
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PHKA2, 3-BP DEL, 419TCT
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776732 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776732;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=rs587776732" 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=rs587776732" 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=RCV000011278" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011278" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011278</a>
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<p>In a Dutch boy with GSD type IXa1 (GSD9A1; <a href="/entry/306000">306000</a>), <a href="#20" class="mim-tip-reference" title="van den Berg, I. E. T., van Beurden, E. A. C. M., Malingre, H. E. M., Ploos van Amstel, H. K., Poll-The, B. T., Smeitink, J. A. M., Lamers, W. H., Berger, R. <strong>X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.</strong> Am. J. Hum. Genet. 56: 381-387, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847371</a>]" pmid="7847371">van den Berg et al. (1995)</a> found a 3-bp deletion (419_421), resulting in deletion of phenylalanine-141 from the gene product. The same deletion was found in the PHKA2 coding sequence from lymphocytes of the patient's mother in heterozygous state. This phenylalanine is a highly conserved amino acid between species. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7847371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 GLYCOGEN STORAGE DISEASE, TYPE IXa1</strong>
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PHKA2, ASP299GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852289 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852289;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=rs137852289" 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=rs137852289" 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=RCV000011280" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011280" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011280</a>
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<p><a href="#3" class="mim-tip-reference" title="Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W. <strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong> Hum. Molec. Genet. 5: 653-658, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>] [<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733134">Burwinkel et al. (1996)</a> identified an A-to-G transition in the PHKA2 gene, resulting in an asp299-to-gly (D299G) substitution, in a patient they classified as having X-linked GSD IXa2 (GSD9A2; see <a href="/entry/306000">306000</a>). However, <a href="#1" class="mim-tip-reference" title="Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M. <strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong> Molec. Genet. Metab. 92: 88-99, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689125</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689125">Beauchamp et al. (2007)</a> identified the D299G mutation in a patient with reduced PHK activity in erythrocytes and leukocytes, consistent with GSD IXa1 (<a href="/entry/306000">306000</a>). They suggested that D299G should be reclassified as a GSD IXa1 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8733134+17689125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 GLYCOGEN STORAGE DISEASE, TYPE IXa2</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">rs137852290 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852290;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=rs137852290" 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=rs137852290" 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=RCV000011281 OR RCV000631189" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011281, RCV000631189" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011281...</a>
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<p>In a patient with X-linked GSD IXa2 (GSD9A2; see <a href="/entry/306000">306000</a>), <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W. <strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong> Hum. Molec. Genet. 5: 653-658, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>] [<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733134">Burwinkel et al. (1996)</a> identified a G-to-A transition in the PHKA2 gene, resulting in an arg186-to-his (R186H) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733134" 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="Hendrickx, J., Bosshard, N. U., Willems, P., Gitzelmann, R. <strong>Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.</strong> Europ. J. Pediat. 157: 919-923, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9835437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9835437</a>] [<a href="https://doi.org/10.1007/s004310050967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9835437">Hendrickx et al. (1998)</a> presented clinical, biochemical, and molecular findings in a patient with type II X-linked liver glycogenosis and the R186H mutation in the PHKA2 gene. The patient had been followed for 40 years. Although growth was retarded early in life, he achieved a height of 182 cm at the age of 33 years. Thyroid therapy appeared to be helpful in this patient. Five male relatives also had liver glycogenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9835437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 GLYCOGEN STORAGE DISEASE, TYPE IXa2</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">rs137852291 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852291;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=rs137852291" 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=rs137852291" 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=RCV000011282 OR RCV002247324" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011282, RCV002247324" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011282...</a>
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<p>In a patient with GSD IXa2 (GSD9A2; <a href="/entry/306000">306000</a>), <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W. <strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong> Hum. Molec. Genet. 5: 653-658, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>] [<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733134">Burwinkel et al. (1996)</a> identified an A-to-C transversion in the PHKA2 gene, resulting in a his132-to-pro (H132P) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
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PHKA2, HIS132TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852292 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852292;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=rs137852292" 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=rs137852292" 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=RCV000011283 OR RCV001333356" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011283, RCV001333356" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011283...</a>
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<p>In a patient with GSD IXa2 (GSD9A2; see <a href="/entry/306000">306000</a>), <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W. <strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong> Hum. Molec. Genet. 5: 653-658, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>] [<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733134">Burwinkel et al. (1996)</a> identified a C-to-T change in the PHKA2 gene, resulting in a his132-to-tyr (H132Y) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
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</span>
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</h4>
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</div>
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PHKA2, THR1114ILE
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852293 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852293;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=rs137852293" 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=rs137852293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011279 OR RCV000548701" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011279, RCV000548701" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011279...</a>
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</span>
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<span class="mim-text-font">
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<p>In a patient with X-linked GSD IXa2 (GSD9A2; see <a href="/entry/306000">306000</a>), <a href="#12" class="mim-tip-reference" title="Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong> Hum. Molec. Genet. 5: 649-652, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733133</a>] [<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733133">Hendrickx et al. (1996)</a> identified a 3341C-T change in the PHKA2 gene, resulting in a thr1114-to-ile (T1114I) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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PHKA2, ARG556CYS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852294 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852294;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=rs137852294" 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=rs137852294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011284 OR RCV000768040 OR RCV001565774" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011284, RCV000768040, RCV001565774" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011284...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with X-linked GSD type IXa2 (GSD9A2; see <a href="/entry/306000">306000</a>), <a href="#12" class="mim-tip-reference" title="Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong> Hum. Molec. Genet. 5: 649-652, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733133</a>] [<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733133">Hendrickx et al. (1996)</a> identified a 556C-T transition in the PHKA2 gene, resulting in an arg556-to-cys (R556C) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0013" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0013 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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PHKA2, 3-BP DEL, NT750
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776733 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776733;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=rs587776733" 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=rs587776733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011285" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011285" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011285</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with X-linked GSD IXa2 (see GSD9A2; see <a href="/entry/306000">306000</a>), <a href="#12" class="mim-tip-reference" title="Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong> Hum. Molec. Genet. 5: 649-652, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733133</a>] [<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733133">Hendrickx et al. (1996)</a> identified an in-frame 3-bp deletion (750_752) in the PHKA2 gene, resulting in the deletion of thr251. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<a id="0014" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0014 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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PHKA2, 6-BP INS, NT3331
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2147806786 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147806786;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=rs2147806786" 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=rs2147806786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011286" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011286" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011286</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with X-linked GSD type IXa2 (GSD9A2; see <a href="/entry/306000">306000</a>), <a href="#12" class="mim-tip-reference" title="Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong> Hum. Molec. Genet. 5: 649-652, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733133</a>] [<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733133">Hendrickx et al. (1996)</a> identified an in-frame 6-bp insertion between nucleotides 3331 and 3332 of the PHKA2 gene, resulting in the insertion of a threonine and an arginine residue between arg1111 and glu1112 (R1111insTR). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<a id="0015" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0015 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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PHKA2, LYS189GLU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852295 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852295;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=rs137852295" 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=rs137852295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011287 OR RCV001781216" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011287, RCV001781216" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011287...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with X-linked GSD IXa2 (GSD9A2; see <a href="/entry/306000">306000</a>), <a href="#2" class="mim-tip-reference" title="Burwinkel, B., Amat, L., Gray, R. G. F., Matsuo, N., Muroya, K., Narisawa, K., Sokol, R. J., Vilaseca, M. A., Kilimann, M. W. <strong>Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.</strong> Hum. Genet. 102: 423-429, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600238</a>] [<a href="https://doi.org/10.1007/s004390050715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600238">Burwinkel et al. (1998)</a> described an A-to-G transition in the PHKA2 coding sequence, resulting in a lys189-to-glu (K189E) substitution. The phenotype in the patient was that of low PHK activity in liver tissue, but activity in erythrocytes was 4-fold higher than normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600238" 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="#Davisson1987" class="mim-tip-reference" title="Davisson, M. T. <strong>X-linked genetic homologies between mouse and man.</strong> Genomics 1: 213-227, 1987.">Davisson (1987)</a>; <a href="#Hendrickx1994" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Hors-Cayla, M.-C., Smit, G. P. A., Shin, Y. S., Deutsch, J., Smeitink, J., Berger, R., Lee, P., Fernandes, J., Willems, P. J. <strong>Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).</strong> Genomics 21: 620-625, 1994.">Hendrickx et al. (1994)</a>; <a href="#Huijing1970" class="mim-tip-reference" title="Huijing, F., Fernandes, J. <strong>Liver glycogenosis and phosphorylase kinase deficiency. (Letter)</strong> Am. J. Hum. Genet. 22: 484-485, 1970.">Huijing and Fernandes
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(1970)</a>; <a href="#Krebs1964" class="mim-tip-reference" title="Krebs, E. G., Love, D. S., Bratvold, G. E., Trayser, K. A., Meyer, W. L., Fischer, E. H. <strong>Purification and properties of rabbit skeletal muscle phosphorylase B kinase.</strong> Biochemistry 3: 1022-1033, 1964.">Krebs et al. (1964)</a>; <a href="#Lyon1967" class="mim-tip-reference" title="Lyon, J. B., Jr., Porter, J., Robertson, M. <strong>Phosphorylase B kinase inheritance in mice.</strong> Science 155: 1550-1551, 1967.">Lyon et al. (1967)</a>; <a href="#Willems1991" class="mim-tip-reference" title="Willems, P. J., Hendrickx, J., Van der Auwera, B. J., Vits, L., Raeymaekers, P., Coucke, P. J., Van den Bergh, I., Berger, R., Smit, G. P. A., Van Broeckhoven, C., Kilimann, M. W., Van Elsen, A. F., Fernandes, J. F. <strong>Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.</strong> Genomics 9: 565-569, 1991.">Willems et al.
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(1991)</a>
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[<a href="https://doi.org/10.1016/j.ymgme.2007.06.007" target="_blank">Full Text</a>]
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Burwinkel, B., Amat, L., Gray, R. G. F., Matsuo, N., Muroya, K., Narisawa, K., Sokol, R. J., Vilaseca, M. A., Kilimann, M. W.
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<strong>Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.</strong>
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Hum. Genet. 102: 423-429, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390050715" target="_blank">Full Text</a>]
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Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W.
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<strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong>
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Hum. Molec. Genet. 5: 653-658, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank">Full Text</a>]
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Davidson, J. J., Ozcelik, T., Hamacher, C., Willems, P. J., Francke, U., Kilimann, M. W.
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<strong>cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.</strong>
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Proc. Nat. Acad. Sci. 89: 2096-2100, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.89.6.2096" target="_blank">Full Text</a>]
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<a id="Davisson1987" class="mim-anchor"></a>
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Davisson, M. T.
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<strong>X-linked genetic homologies between mouse and man.</strong>
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Genomics 1: 213-227, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3328737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3328737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3328737" 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(87)90047-4" target="_blank">Full Text</a>]
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<strong>Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).</strong>
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Molec. Genet. Metab. 92: 179-182, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17581768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17581768</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17581768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2007.05.007" target="_blank">Full Text</a>]
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Hendrickx, J., Bosshard, N. U., Willems, P., Gitzelmann, R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9835437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9835437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9835437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004310050967" target="_blank">Full Text</a>]
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Hendrickx, J., Coucke, P., Bossuyt, P., Wauters, J., Raeymaekers, P., Marchau, F., Smit, G. P. A., Stolte, I., Sardharwalla, I. B., Berthelot, J., Van den Bergh, I., Berger, R., Van Broeckhoven, C., Baussan, C., Wapenaar, M., Fernandes, J., Willems, P. J.
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<strong>X-linked liver glycogenosis: localization and isolation of a candidate gene.</strong>
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Hum. Molec. Genet. 2: 583-589, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8518797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8518797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8518797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/2.5.583" target="_blank">Full Text</a>]
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Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J.
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<strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong>
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Hum. Molec. Genet. 4: 77-83, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/4.1.77" target="_blank">Full Text</a>]
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Hendrickx, J., Coucke, P., Hors-Cayla, M.-C., Smit, G. P. A., Shin, Y. S., Deutsch, J., Smeitink, J., Berger, R., Lee, P., Fernandes, J., Willems, P. J.
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<strong>Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).</strong>
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Genomics 21: 620-625, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959740" 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/10.1006/geno.1994.1322" target="_blank">Full Text</a>]
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Hendrickx, J., Coucke, P., Raeymaekers, P., Willems, P. J.
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<strong>X-linked liver glycogenosis: localization and isolation of a strong candidate gene. (Abstract)</strong>
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Am. J. Hum. Genet. 51 (suppl.): A190 only, 1992.
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Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J.
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<strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong>
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Hum. Molec. Genet. 5: 649-652, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank">Full Text</a>]
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Hendrickx, J., Lee, P., Keating, J. P., Carton, D., Sardharwalla, I. B., Tuchman, M., Baussan, C., Willems, P. J.
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<strong>Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II.</strong>
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Am. J. Hum. Genet. 64: 1541-1549, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330341" 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/10.1086/302399" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
|
|
<a id="Huijing1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huijing, F., Fernandes, J.
|
|
<strong>X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.</strong>
|
|
Am. J. Hum. Genet. 21: 275-284, 1969.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5306139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5306139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5306139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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|
</li>
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<li>
|
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<a id="15" class="mim-anchor"></a>
|
|
<a id="Huijing1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huijing, F., Fernandes, J.
|
|
<strong>Liver glycogenosis and phosphorylase kinase deficiency. (Letter)</strong>
|
|
Am. J. Hum. Genet. 22: 484-485, 1970.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5270453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5270453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5270453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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|
</li>
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<li>
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|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Krebs1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Krebs, E. G., Love, D. S., Bratvold, G. E., Trayser, K. A., Meyer, W. L., Fischer, E. H.
|
|
<strong>Purification and properties of rabbit skeletal muscle phosphorylase B kinase.</strong>
|
|
Biochemistry 3: 1022-1033, 1964.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14220660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14220660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14220660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1021/bi00896a003" target="_blank">Full Text</a>]
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</p>
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|
</div>
|
|
</li>
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<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Lyon1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lyon, J. B., Jr., Porter, J., Robertson, M.
|
|
<strong>Phosphorylase B kinase inheritance in mice.</strong>
|
|
Science 155: 1550-1551, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6020474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6020474</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6020474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1126/science.155.3769.1550" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
|
|
<a id="Roscher2014" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
|
|
Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S.
|
|
<strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong>
|
|
Molec. Genet. Metab. 113: 171-176, 2014.
|
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25266922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25266922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25266922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1016/j.ymgme.2014.09.005" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
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<a id="19" class="mim-anchor"></a>
|
|
<a id="Ryder-Cook1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ryder-Cook, A. S., Derry, J. M. J., Barnard, P. J.
|
|
<strong>Localization of the phosphorylase kinase alpha subunit gene on the mouse X chromosome. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1071-1072, 1989.
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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>
|
|
<a id="van den Berg1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
van den Berg, I. E. T., van Beurden, E. A. C. M., Malingre, H. E. M., Ploos van Amstel, H. K., Poll-The, B. T., Smeitink, J. A. M., Lamers, W. H., Berger, R.
|
|
<strong>X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.</strong>
|
|
Am. J. Hum. Genet. 56: 381-387, 1995.
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|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7847371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
|
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<a id="Wauters1992" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Wauters, J. G., Bossuyt, P. J., Davidson, J., Hendrickx, J., Kilimann, M. W., Willems, P. J.
|
|
<strong>Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.</strong>
|
|
Cytogenet. Cell Genet. 60: 194-196, 1992.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505214</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1505214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000133334" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
|
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<a id="Willems1990" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Willems, P. J., Gerver, W. J. M., Berger, R., Fernandes, J.
|
|
<strong>The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.</strong>
|
|
Europ. J. Pediat. 149: 268-271, 1990.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2303074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2303074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2303074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF02106291" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
|
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<a id="Willems1991" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Willems, P. J., Hendrickx, J., Van der Auwera, B. J., Vits, L., Raeymaekers, P., Coucke, P. J., Van den Bergh, I., Berger, R., Smit, G. P. A., Van Broeckhoven, C., Kilimann, M. W., Van Elsen, A. F., Fernandes, J. F.
|
|
<strong>Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.</strong>
|
|
Genomics 9: 565-569, 1991.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674721" 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(91)90347-h" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<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>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 05/27/2015
|
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</span>
|
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</div>
|
|
</div>
|
|
<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">
|
|
Cassandra L. Kniffin - updated : 10/9/2009
|
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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">
|
|
Creation Date:
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin : 9/20/2009
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 03/29/2022
|
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</span>
|
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</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<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">
|
|
<span class="mim-text-font">
|
|
alopez : 09/23/2016<br>alopez : 05/27/2015<br>carol : 4/29/2014<br>mcolton : 4/25/2014<br>wwang : 11/5/2009<br>ckniffin : 10/9/2009<br>carol : 10/1/2009<br>ckniffin : 9/24/2009
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 300798
|
|
</span>
|
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</h3>
|
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</div>
|
|
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|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2
|
|
|
|
</span>
|
|
</h3>
|
|
</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>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: PHKA2</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: Xp22.13
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : X:18,892,298-18,984,114 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
Xp22.13
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease, type IXa1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
306000
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease, type IXa2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
306000
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The PHKA2 gene on chromosome Xp22 encodes the alpha subunit of hepatic phosphorylase kinase (PHK; EC 2.7.11.19). Hepatic phosphorylase kinase is a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB, 172490), gamma (PHKG2, (172471)), and delta. The delta subunit can be encoded by 3 different genes (CALM1, 114180; CALM2, 114182; or CALM3, 114183). The PHKA1 (311870) and PHKG1 (172470) genes encode the alpha and gamma subunits, respectively, of muscle phosphorylase kinase; the beta subunit is the same in both isoforms. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit, which encodes calmodulin, mediates the dependence of the enzyme on calcium concentration (Beauchamp et al., 2007). </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>Davidson et al. (1992) isolated clones corresponding to the Phka2 gene from a rabbit cDNA library. The deduced 1,235-residue protein showed 68% sequence similarity to the rabbit Phka1 gene. The placement of nucleotide and residue differences indicated that Phka1 and Phka2 are encoded by 2 separate genes, rather than being generated by alternative splicing of a single gene. Northern blot analysis identified a 4.3-kb mRNA Phka2 transcript with high expression in liver and brain, but not in muscle. </p><p>Hendrickx et al. (1992, 1993) isolated a clone for the human PHKA2 gene from a human hepatoma cDNA library. The protein showed 93.5% homology to the rabbit protein. Two calmodulin binding sites identified in rabbit Phka1 are highly conserved in rabbit and human PHKA2. Differential splicing was 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>
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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>Using the rabbit Phka2 gene, Davidson et al. (1992) mapped the human homolog, PHKA2, to chromosome Xp22.2-p22.1. By in situ hybridization, Wauters et al. (1992) demonstrated that the PHKA2 gene is located in the distal part of Xp in the same region as the mutation for X-linked liver glycogenosis (GSD IXa; 306000). By fluorescence in situ hybridization, Hendrickx et al. (1992, 1993) mapped the human PHKA2 gene to Xp22. It is noteworthy that PHKA1 and PHKA2 are located on Xq and Xp, respectively. </p><p>In the mouse, Ryder-Cook et al. (1989) mapped the alpha subunit of phosphorylase kinase to the X chromosome. They noted that the beta, gamma, and delta subunits are autosomal.</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>Hendrickx et al. (1999) determined that the human PHKA2 gene contains 33 exons and spans 65 kb or more. </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 patients with X-linked hepatic glycogen storage disease (GSD9A; see 306000), Hendrickx et al. (1995) identified 4 different mutations in the PHKA2 gene (300798.0001-300798.0004). </p><p>Van den Berg et al. (1995) identified mutations in the PHKA2 gene (300798.0005 and 300798.0006) in affected members of 2 Dutch families with GSD IXa1. One of the families had been reported by Huijing and Fernandes (1969). </p><p>Burwinkel et al. (1996) identified mutations in the PHKA2 gene in patients with GSD IXa2 (306000.0007-306000.0010). The mutations appeared to cluster in limited sequence regions. Burwinkel et al. (1996) stressed that the clustering of GSD IXa2 mutations would further facilitate analysis by RT-PCR of blood cell mRNA and thus help avoid liver biopsy in the diagnosis. </p><p>In a Japanese boy with classic GSD IXa2, Fukao et al. (2007) identified a hemizygous 10-kb deletion in the PHKA2 gene, resulting in the deletion of exons 20 to 26. Studies of the breakpoint regions showed that the deletion resulted from Alu element-mediated unequal homologous recombination. </p><p>Roscher et al. (2014) reported 7 novel mutations in the PHKA2 gene resulting in GSD IXa. </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>Genotype/Phenotype Correlations</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 4 unrelated patients with GSD IXa2, Hendrickx et al. (1996) identified 4 different mutations in the PHKA2 gene (306000.0011-306000.0014). The mutations resulted in minor abnormalities in the primary structure of the protein. These mutations are found in a conserved RXX(X)T motif, resembling known phosphorylation sites that may be involved in the regulation of PHK. Hendrickx et al. (1996) postulated that PHK activity may be regulated by phosphorylation of these sites and that type II GSD9A may be due to impaired activation of PHK activity. The findings may explain why the in vitro PHK enzymatic activity is not deficient in type II, whereas it is in type I. </p><p>Hendrickx et al. (1999) identified PHKA2 mutations in 10 patients with GSD9A, types I and II. They proposed that mutations in GSD type I, in which PHK activity is decreased in both liver and erythrocytes, results from truncation or disruption of the PHKA2 protein. In contrast, all type II mutations, which result in residual activity in erythrocytes, were missense mutations or small in-frame deletions and insertions. These results suggested that the biochemical differences between the 2 types of GSD IXa are due to the different nature of the disease-causing mutations in PHKA2. Type I mutations may lead to absence of the alpha subunit, which causes an unstable PHK holoenzyme and deficient enzyme activity, whereas type II mutations may lead to in vivo deregulation of PHK, which might be difficult to demonstrate in vitro. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 GLYCOGEN STORAGE DISEASE, TYPE IXa1</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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PHKA2, GLN1009TER
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<br />
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SNP: rs137852285,
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ClinVar: RCV000011273
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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 Belgian boy with glycogen storage disease IXa1 (GSD9A1; 306000), Hendrickx et al. (1995) identified a C-to-T transition in exon 8, resulting in a gln1009-to-ter (Q1009X) substitution. This led to a truncated protein that lacked the C terminus, the phosphorylation site, and a putative calmodulin-binding site. The patient had hepatomegaly, elevated liver enzymes, and growth retardation that decreased with puberty. PHK activity was completely absent from erythrocytes and liver. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 GLYCOGEN STORAGE DISEASE, TYPE IXa1</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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PHKA2, GLN766TER
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<br />
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SNP: rs137852286,
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ClinVar: RCV000011274
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a French boy with GSD type IXa1 (GSD9A1; 306000), Hendrickx et al. (1995) found a C-to-T transition in exon 2 of the PHKA gene, resulting in a gln766-to-ter (Q766X) substitution. This led to a truncated protein that lacked the C terminus, the phosphorylation site, and both putative calmodulin-binding sites. The patient had hepatomegaly, elevated liver enzymes, and growth retardation. Erythrocyte PHK activity was 2% of control values. His mildly affected sister had only hepatomegaly; her erythrocyte PHK activity was 30% of control values. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 GLYCOGEN STORAGE DISEASE, TYPE IXa1</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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PHKA2, IVS7DS, G-T, +1
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<br />
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SNP: rs587776731,
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ClinVar: RCV000011275
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In twin boys from the U.K. with GSD type IXa1 (GSD9A1; 306000), Hendrickx et al. (1995) found a G-to-T transversion at position +1 of intron 7 of the PHKA2 gene. This resulted in complete skipping of exon 7 and a PHKA2 protein lacking the 34 amino acids of this exon. Both patients had hepatomegaly, growth retardation, and hypertriglyceridemia, but not hypercholesterolemia. Only 1 had increased liver enzymes. Hepatomegaly disappeared in both boys between ages 8 and 10 years. Erythrocyte activity was 8 and 4% of control values, respectively. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 GLYCOGEN STORAGE DISEASE, TYPE IXa1</strong>
|
|
</span>
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
PHKA2, SER1049TER
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<br />
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|
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SNP: rs137852287,
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gnomAD: rs137852287,
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ClinVar: RCV000011276
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers from the U.K. with GSD type IXa1 (GSD9A1; 306000), Hendrickx et al. (1995) found a C-to-A transversion in exon 11 of the PHKA2 gene, resulting in a ser1049-to-ter (S1049X) substitution and protein lacking more than 180 amino acids of the C terminus, including the 3-prime putative calmodulin binding site. Both patients had growth retardation, hepatomegaly, and elevated liver enzymes. Erythrocyte PHK activity was 5.7 and 16.9% of control values, respectively. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLYCOGEN STORAGE DISEASE, TYPE IXa1</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKA2, PRO1205LEU
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<br />
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|
|
SNP: rs137852288,
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|
|
ClinVar: RCV000011277, RCV001091309
|
|
|
|
|
|
</span>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Dutch family with GSD type IXa1 (GSD9A1; 306000) previously described by Huijing and Fernandes (1969) and Willems et al. (1990), van den Berg et al. (1995) found a 3614C-T transition in the PHKA2 gene, resulting in a pro1205-to-leu (P1205L) substitution in a highly conserved region of the protein. </p>
|
|
</span>
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|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLYCOGEN STORAGE DISEASE, TYPE IXa1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKA2, 3-BP DEL, 419TCT
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<br />
|
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|
|
SNP: rs587776732,
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|
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ClinVar: RCV000011278
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|
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</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch boy with GSD type IXa1 (GSD9A1; 306000), van den Berg et al. (1995) found a 3-bp deletion (419_421), resulting in deletion of phenylalanine-141 from the gene product. The same deletion was found in the PHKA2 coding sequence from lymphocytes of the patient's mother in heterozygous state. This phenylalanine is a highly conserved amino acid between species. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLYCOGEN STORAGE DISEASE, TYPE IXa1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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PHKA2, ASP299GLY
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<br />
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|
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SNP: rs137852289,
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|
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ClinVar: RCV000011280
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Burwinkel et al. (1996) identified an A-to-G transition in the PHKA2 gene, resulting in an asp299-to-gly (D299G) substitution, in a patient they classified as having X-linked GSD IXa2 (GSD9A2; see 306000). However, Beauchamp et al. (2007) identified the D299G mutation in a patient with reduced PHK activity in erythrocytes and leukocytes, consistent with GSD IXa1 (306000). They suggested that D299G should be reclassified as a GSD IXa1 mutation. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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PHKA2, ARG186HIS
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<br />
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|
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SNP: rs137852290,
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ClinVar: RCV000011281, RCV000631189
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked GSD IXa2 (GSD9A2; see 306000), Burwinkel et al. (1996) identified a G-to-A transition in the PHKA2 gene, resulting in an arg186-to-his (R186H) substitution. </p><p>Hendrickx et al. (1998) presented clinical, biochemical, and molecular findings in a patient with type II X-linked liver glycogenosis and the R186H mutation in the PHKA2 gene. The patient had been followed for 40 years. Although growth was retarded early in life, he achieved a height of 182 cm at the age of 33 years. Thyroid therapy appeared to be helpful in this patient. Five male relatives also had liver glycogenosis. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
|
PHKA2, HIS132PRO
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<br />
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|
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SNP: rs137852291,
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ClinVar: RCV000011282, RCV002247324
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with GSD IXa2 (GSD9A2; 306000), Burwinkel et al. (1996) identified an A-to-C transversion in the PHKA2 gene, resulting in a his132-to-pro (H132P) substitution. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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PHKA2, HIS132TYR
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<br />
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|
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SNP: rs137852292,
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ClinVar: RCV000011283, RCV001333356
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient with GSD IXa2 (GSD9A2; see 306000), Burwinkel et al. (1996) identified a C-to-T change in the PHKA2 gene, resulting in a his132-to-tyr (H132Y) substitution. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
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<br />
|
|
</div>
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|
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</div>
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|
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|
|
<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKA2, THR1114ILE
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|
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|
|
<br />
|
|
|
|
SNP: rs137852293,
|
|
|
|
|
|
|
|
ClinVar: RCV000011279, RCV000548701
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked GSD IXa2 (GSD9A2; see 306000), Hendrickx et al. (1996) identified a 3341C-T change in the PHKA2 gene, resulting in a thr1114-to-ile (T1114I) substitution. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
|
|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKA2, ARG556CYS
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|
<br />
|
|
|
|
SNP: rs137852294,
|
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|
|
|
|
ClinVar: RCV000011284, RCV000768040, RCV001565774
|
|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked GSD type IXa2 (GSD9A2; see 306000), Hendrickx et al. (1996) identified a 556C-T transition in the PHKA2 gene, resulting in an arg556-to-cys (R556C) substitution. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKA2, 3-BP DEL, NT750
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776733,
|
|
|
|
|
|
|
|
ClinVar: RCV000011285
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked GSD IXa2 (see GSD9A2; see 306000), Hendrickx et al. (1996) identified an in-frame 3-bp deletion (750_752) in the PHKA2 gene, resulting in the deletion of thr251. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKA2, 6-BP INS, NT3331
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2147806786,
|
|
|
|
|
|
|
|
ClinVar: RCV000011286
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked GSD type IXa2 (GSD9A2; see 306000), Hendrickx et al. (1996) identified an in-frame 6-bp insertion between nucleotides 3331 and 3332 of the PHKA2 gene, resulting in the insertion of a threonine and an arginine residue between arg1111 and glu1112 (R1111insTR). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 GLYCOGEN STORAGE DISEASE, TYPE IXa2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PHKA2, LYS189GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852295,
|
|
|
|
|
|
|
|
ClinVar: RCV000011287, RCV001781216
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked GSD IXa2 (GSD9A2; see 306000), Burwinkel et al. (1998) described an A-to-G transition in the PHKA2 coding sequence, resulting in a lys189-to-glu (K189E) substitution. The phenotype in the patient was that of low PHK activity in liver tissue, but activity in erythrocytes was 4-fold higher than normal. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Davisson (1987); Hendrickx et al. (1994); Huijing and Fernandes
|
|
(1970); Krebs et al. (1964); Lyon et al. (1967); Willems et al.
|
|
(1991)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M.
|
|
<strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong>
|
|
Molec. Genet. Metab. 92: 88-99, 2007.
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|
|
[PubMed: 17689125]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2007.06.007]
|
|
|
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|
|
</p>
|
|
</li>
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|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burwinkel, B., Amat, L., Gray, R. G. F., Matsuo, N., Muroya, K., Narisawa, K., Sokol, R. J., Vilaseca, M. A., Kilimann, M. W.
|
|
<strong>Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.</strong>
|
|
Hum. Genet. 102: 423-429, 1998.
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|
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[PubMed: 9600238]
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|
|
[Full Text: https://doi.org/10.1007/s004390050715]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W.
|
|
<strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong>
|
|
Hum. Molec. Genet. 5: 653-658, 1996.
|
|
|
|
|
|
[PubMed: 8733134]
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|
|
[Full Text: https://doi.org/10.1093/hmg/5.5.653]
|
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Davidson, J. J., Ozcelik, T., Hamacher, C., Willems, P. J., Francke, U., Kilimann, M. W.
|
|
<strong>cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 2096-2100, 1992.
|
|
|
|
|
|
[PubMed: 1372435]
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.89.6.2096]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davisson, M. T.
|
|
<strong>X-linked genetic homologies between mouse and man.</strong>
|
|
Genomics 1: 213-227, 1987.
|
|
|
|
|
|
[PubMed: 3328737]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(87)90047-4]
|
|
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|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Fukao, T., Zhang, G., Aoki, Y., Arai, T., Teramoto, T., Kaneko, H., Sugie, H., Kondo, N.
|
|
<strong>Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).</strong>
|
|
Molec. Genet. Metab. 92: 179-182, 2007.
|
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|
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|
|
[PubMed: 17581768]
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|
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|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2007.05.007]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hendrickx, J., Bosshard, N. U., Willems, P., Gitzelmann, R.
|
|
<strong>Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.</strong>
|
|
Europ. J. Pediat. 157: 919-923, 1998.
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|
|
|
|
|
[PubMed: 9835437]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004310050967]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hendrickx, J., Coucke, P., Bossuyt, P., Wauters, J., Raeymaekers, P., Marchau, F., Smit, G. P. A., Stolte, I., Sardharwalla, I. B., Berthelot, J., Van den Bergh, I., Berger, R., Van Broeckhoven, C., Baussan, C., Wapenaar, M., Fernandes, J., Willems, P. J.
|
|
<strong>X-linked liver glycogenosis: localization and isolation of a candidate gene.</strong>
|
|
Hum. Molec. Genet. 2: 583-589, 1993.
|
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|
|
|
|
[PubMed: 8518797]
|
|
|
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|
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[Full Text: https://doi.org/10.1093/hmg/2.5.583]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J.
|
|
<strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong>
|
|
Hum. Molec. Genet. 4: 77-83, 1995.
|
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|
|
|
|
[PubMed: 7711737]
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|
[Full Text: https://doi.org/10.1093/hmg/4.1.77]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hendrickx, J., Coucke, P., Hors-Cayla, M.-C., Smit, G. P. A., Shin, Y. S., Deutsch, J., Smeitink, J., Berger, R., Lee, P., Fernandes, J., Willems, P. J.
|
|
<strong>Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).</strong>
|
|
Genomics 21: 620-625, 1994.
|
|
|
|
|
|
[PubMed: 7959740]
|
|
|
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|
|
[Full Text: https://doi.org/10.1006/geno.1994.1322]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
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<li>
|
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<p class="mim-text-font">
|
|
Hendrickx, J., Coucke, P., Raeymaekers, P., Willems, P. J.
|
|
<strong>X-linked liver glycogenosis: localization and isolation of a strong candidate gene. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 51 (suppl.): A190 only, 1992.
|
|
|
|
</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J.
|
|
<strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong>
|
|
Hum. Molec. Genet. 5: 649-652, 1996.
|
|
|
|
|
|
[PubMed: 8733133]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/5.5.649]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hendrickx, J., Lee, P., Keating, J. P., Carton, D., Sardharwalla, I. B., Tuchman, M., Baussan, C., Willems, P. J.
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|
<strong>Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II.</strong>
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|
Am. J. Hum. Genet. 64: 1541-1549, 1999.
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|
|
|
|
[PubMed: 10330341]
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|
|
|
|
|
[Full Text: https://doi.org/10.1086/302399]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huijing, F., Fernandes, J.
|
|
<strong>X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.</strong>
|
|
Am. J. Hum. Genet. 21: 275-284, 1969.
|
|
|
|
|
|
[PubMed: 5306139]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huijing, F., Fernandes, J.
|
|
<strong>Liver glycogenosis and phosphorylase kinase deficiency. (Letter)</strong>
|
|
Am. J. Hum. Genet. 22: 484-485, 1970.
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|
|
|
|
|
[PubMed: 5270453]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Krebs, E. G., Love, D. S., Bratvold, G. E., Trayser, K. A., Meyer, W. L., Fischer, E. H.
|
|
<strong>Purification and properties of rabbit skeletal muscle phosphorylase B kinase.</strong>
|
|
Biochemistry 3: 1022-1033, 1964.
|
|
|
|
|
|
[PubMed: 14220660]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1021/bi00896a003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lyon, J. B., Jr., Porter, J., Robertson, M.
|
|
<strong>Phosphorylase B kinase inheritance in mice.</strong>
|
|
Science 155: 1550-1551, 1967.
|
|
|
|
|
|
[PubMed: 6020474]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.155.3769.1550]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S.
|
|
<strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong>
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|
Molec. Genet. Metab. 113: 171-176, 2014.
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|
|
|
|
|
[PubMed: 25266922]
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|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2014.09.005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ryder-Cook, A. S., Derry, J. M. J., Barnard, P. J.
|
|
<strong>Localization of the phosphorylase kinase alpha subunit gene on the mouse X chromosome. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1071-1072, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van den Berg, I. E. T., van Beurden, E. A. C. M., Malingre, H. E. M., Ploos van Amstel, H. K., Poll-The, B. T., Smeitink, J. A. M., Lamers, W. H., Berger, R.
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<strong>X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.</strong>
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Am. J. Hum. Genet. 56: 381-387, 1995.
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[PubMed: 7847371]
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</p>
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Wauters, J. G., Bossuyt, P. J., Davidson, J., Hendrickx, J., Kilimann, M. W., Willems, P. J.
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<strong>Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.</strong>
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Cytogenet. Cell Genet. 60: 194-196, 1992.
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[PubMed: 1505214]
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[Full Text: https://doi.org/10.1159/000133334]
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</li>
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<li>
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<p class="mim-text-font">
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Willems, P. J., Gerver, W. J. M., Berger, R., Fernandes, J.
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<strong>The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.</strong>
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Europ. J. Pediat. 149: 268-271, 1990.
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[PubMed: 2303074]
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[Full Text: https://doi.org/10.1007/BF02106291]
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</li>
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Willems, P. J., Hendrickx, J., Van der Auwera, B. J., Vits, L., Raeymaekers, P., Coucke, P. J., Van den Bergh, I., Berger, R., Smit, G. P. A., Van Broeckhoven, C., Kilimann, M. W., Van Elsen, A. F., Fernandes, J. F.
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<strong>Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.</strong>
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Genomics 9: 565-569, 1991.
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[PubMed: 1674721]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90347-h]
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Ada Hamosh - updated : 05/27/2015<br>Cassandra L. Kniffin - updated : 10/9/2009
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