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Entry
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- *102600 - ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT
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- OMIM
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<p>
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<span class="h4">*102600</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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/102600">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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<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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</ul>
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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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<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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</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=ENSG00000198931;t=ENST00000378364" 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=353" 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=102600" 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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<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=ENSG00000198931;t=ENST00000378364" 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_000485,NM_001030018" 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_000485" 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=102600" 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=00029&isoform_id=00029_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/APRT" 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/28819,114074,178867,498574,4502171,31415697,51476557,71773201,115527246,119587164,119587165,310900555" 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/P07741" 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=353" 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=ENSG00000198931;t=ENST00000378364" 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=APRT" 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=APRT" 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+353" 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/APRT" 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:353" 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/353" 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=chr16&hgg_gene=ENST00000378364.8&hgg_start=88809339&hgg_end=88811928&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/aprt" 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=102600[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=102600[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000198931" 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=APRT" 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=APRT" 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=APRT&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/PA24914" 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:626" 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/FBgn0000109.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:88061" 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/APRT#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:88061" 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/353/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=353" 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=WBGene00020557;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-040426-1492" 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="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:102600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:353" 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=APRT&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 124274002, 65791008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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102600
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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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ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT
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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=APRT" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">APRT</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/16/738?start=-3&limit=10&highlight=738">16q24.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:88809339-88811928&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'})">16:88,809,339-88,811,928</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/738?start=-3&limit=10&highlight=738">
|
|
16q24.3
|
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</a>
|
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</span>
|
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</td>
|
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|
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|
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<td>
|
|
<span class="mim-font">
|
|
Adenine phosphoribosyltransferase deficiency
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614723"> 614723 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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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/102600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/102600" 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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|
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<span class="mim-font">
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<p>The APRT gene encodes adenine phosphoribosyltransferase (<a href="https://enzyme.expasy.org/EC/2.4.2.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.2.7</a>), an enzyme that catalyzes the formation of AMP from adenine and phosphoribosylpyrophosphate. APRT acts as a salvage enzyme for the recycling of adenine into nucleic acids (summary by <a href="#2" class="mim-tip-reference" title="Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., Stambrook, P. J. <strong>Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.</strong> Proc. Nat. Acad. Sci. 84: 3349-3353, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3554238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3554238</a>] [<a href="https://doi.org/10.1073/pnas.84.10.3349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3554238">Broderick et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3554238" 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="#40" class="mim-tip-reference" title="Wilson, J. M., O'Toole, T. E., Argos, P., Shewach, D. S., Daddona, P. E., Kelley, W. N. <strong>Human adenine phosphoribosyltransferase: complete amino acid sequence of the erythrocyte enzyme.</strong> J. Biol. Chem. 261: 13677-13683, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3531209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3531209</a>]" pmid="3531209">Wilson et al. (1986)</a> determined the amino acid sequence of the APRT protein. The enzyme has 179 residues with a calculated molecular weight of 19.5 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3531209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., Stambrook, P. J. <strong>Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.</strong> Proc. Nat. Acad. Sci. 84: 3349-3353, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3554238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3554238</a>] [<a href="https://doi.org/10.1073/pnas.84.10.3349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3554238">Broderick et al. (1987)</a> determined the nucleotide sequence of the human APRT gene. The APRT gene encodes a 180-amino acid protein (<a href="#38" class="mim-tip-reference" title="Tischfield, J. A., Ruddle, F. H. <strong>Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization.</strong> Proc. Nat. Acad. Sci. 71: 45-49, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4129802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4129802</a>] [<a href="https://doi.org/10.1073/pnas.71.1.45" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4129802">Tischfield and Ruddle, 1974</a>). Comparative analysis by <a href="#2" class="mim-tip-reference" title="Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., Stambrook, P. J. <strong>Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.</strong> Proc. Nat. Acad. Sci. 84: 3349-3353, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3554238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3554238</a>] [<a href="https://doi.org/10.1073/pnas.84.10.3349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3554238">Broderick et al. (1987)</a> showed that the amino acid sequence is highly conserved: the human protein was 82% and 90% identical to the mouse and hamster sequences, respectively. The gene is constitutively expressed and subject to little, if any, regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3554238+4129802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Hidaka, Y., Tarle, S. A., O'Toole, T. E., Kelley, W. N., Palella, T. D. <strong>Nucleotide sequence of the human APRT gene.</strong> Nucleic Acids Res. 15: 9086, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3684585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3684585</a>] [<a href="https://doi.org/10.1093/nar/15.21.9086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3684585">Hidaka et al. (1987)</a> prepared a complete sequence of the APRT gene and found a number of discrepancies from the sequence reported by <a href="#2" class="mim-tip-reference" title="Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., Stambrook, P. J. <strong>Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.</strong> Proc. Nat. Acad. Sci. 84: 3349-3353, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3554238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3554238</a>] [<a href="https://doi.org/10.1073/pnas.84.10.3349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3554238">Broderick et al. (1987)</a>, all occurring within noncoding regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3684585+3554238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., Stambrook, P. J. <strong>Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.</strong> Proc. Nat. Acad. Sci. 84: 3349-3353, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3554238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3554238</a>] [<a href="https://doi.org/10.1073/pnas.84.10.3349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3554238">Broderick et al. (1987)</a> determined that the APRT gene is about 2.6 kb long and contains 5 exons. The promoter region of the human APRT gene, like that of several other housekeeping genes, lacks the 'TATA' and 'CCAAT' boxes but contains 5 GC boxes that are potential binding sites for the Sp1 transcription factor. <a href="#2" class="mim-tip-reference" title="Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., Stambrook, P. J. <strong>Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.</strong> Proc. Nat. Acad. Sci. 84: 3349-3353, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3554238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3554238</a>] [<a href="https://doi.org/10.1073/pnas.84.10.3349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3554238">Broderick et al. (1987)</a> found that CpG dinucleotides in the APRT gene in species as widely separated in evolution as man, mouse, hamster, and E. coli were conserved at a frequency higher than expected on the basis of randomness considering the G+C content of the gene. This suggested some importance of this sequence to the function of the gene. Although the intron 1 sequences of mouse and man had no apparent homology, both had retained a very high CpG content. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3554238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By cell hybridization studies, <a href="#38" class="mim-tip-reference" title="Tischfield, J. A., Ruddle, F. H. <strong>Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization.</strong> Proc. Nat. Acad. Sci. 71: 45-49, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4129802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4129802</a>] [<a href="https://doi.org/10.1073/pnas.71.1.45" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4129802">Tischfield and Ruddle (1974)</a> concluded that the APRT locus is on chromosome 16. <a href="#28" class="mim-tip-reference" title="Marimo, B., Giannelli, F. <strong>Gene dosage effect in human trisomy 16.</strong> Nature 256: 204-206, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1152988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1152988</a>] [<a href="https://doi.org/10.1038/256204a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1152988">Marimo and Giannelli (1975)</a> confirmed this assignment by demonstrating a 1.69-fold increase in enzyme level in trisomy 16 cells. The same cells showed no difference in the levels of HGPRT (<a href="/entry/308000">308000</a>), G6PD (<a href="/entry/305900">305900</a>) or adenosine kinase (<a href="/entry/102750">102750</a>) from controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4129802+1152988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Barg, R., Barton, P., Caine, A., Clements, R. L., Ferguson-Smith, M. A., Malcolm, S., Morrison, N., Murphy, C. S. <strong>Regional localization of the human alpha-globin gene to the short arm of chromosome 16 (16p12-pter) using both somatic cell hybrids and in situ hybridization.</strong> Cytogenet. Cell Genet. 32: 252-253, 1982."None>Barg et al. (1982)</a> assigned APRT to chromosome 16pter-q12. <a href="#26" class="mim-tip-reference" title="Lavinha, J., Morrison, N., Glasgow, L., Ferguson-Smith, M. A. <strong>Further evidence for the regional localization of human APRT and DIA4 on chromosome 16. (Abstract)</strong> Cytogenet. Cell Genet. 37: 517 only, 1984."None>Lavinha et al. (1984)</a> assigned APRT and DIA4 (<a href="/entry/125860">125860</a>) to 16q12-q22 by study of rearranged chromosomes 16 in somatic cell hybrids. For APRT, <a href="#7" class="mim-tip-reference" title="Ferguson-Smith, M. A., Cox, D. R. <strong>Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16 and 17.</strong> Cytogenet. Cell Genet. 37: 127-154, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6360556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6360556</a>] [<a href="https://doi.org/10.1159/000132007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6360556">Ferguson-Smith and Cox (1984)</a> found a smallest region of overlap (SRO) of 16q22.2-q22.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6360556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Fratini, A., Simmers, R. N., Callen, D. F., Hyland, V. J., Tischfield, J. A., Stambrook, P. J., Sutherland, G. R. <strong>A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23) (FRA16D) loci.</strong> Cytogenet. Cell Genet. 43: 10-13, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3780312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3780312</a>] [<a href="https://doi.org/10.1159/000132291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3780312">Fratini et al. (1986)</a> mapped the APRT locus with respect to the HP (<a href="/entry/140100">140100</a>) locus and the fragile site at 16q23.2 (FRA16D). A subclone of the APRT gene and a cDNA clone of HP were used for molecular hybridization to DNA from mouse-human hybrid cell lines containing specific chromosome 16 translocations. The APRT subclone was used for in situ hybridization to chromosomes expressing FRA16D. APRT was found to be distal to HP and FRA16D and was localized at 16q24, making the gene order cen--FRA16B--HP--FRA16D--APRT--qter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3780312" 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>Mutant forms of adenine phosphoribosyltransferase resulting in enzyme deficiency (APRTD; <a href="/entry/614723">614723</a>) were described by <a href="#25" class="mim-tip-reference" title="Kelley, W. N., Levy, R. I., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E. <strong>Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.</strong> J. Clin. Invest. 47: 2281-2289, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5676523/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5676523</a>] [<a href="https://doi.org/10.1172/JCI105913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5676523">Kelley et al. (1968)</a> and by <a href="#14" class="mim-tip-reference" title="Henderson, J. F., Kelley, W. N., Rosenbloom, F. M., Seegmiller, J. E. <strong>Inheritance of purine phosphoribosyltransferases in man.</strong> Am. J. Hum. Genet. 21: 61-70, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5763607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5763607</a>]" pmid="5763607">Henderson et al. (1969)</a>, who found the inheritance to be autosomal. A heat-stable enzyme allele had a frequency of about 15% and the heat-labile enzyme allele a frequency of about 85%. <a href="#25" class="mim-tip-reference" title="Kelley, W. N., Levy, R. I., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E. <strong>Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.</strong> J. Clin. Invest. 47: 2281-2289, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5676523/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5676523</a>] [<a href="https://doi.org/10.1172/JCI105913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5676523">Kelley et al. (1968)</a> found apparent heterozygosity in 4 persons in 3 generations of a family. However, the level of enzyme activity ranged from 21 to 37%, not 50%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5763607+5676523" 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 lymphoblastoid cell line from a Caucasian patient in Belgium with complete APRT deficiency (<a href="/entry/614723">614723</a>), <a href="#15" class="mim-tip-reference" title="Hidaka, Y., Palella, T. D., O'Toole, T. E., Tarle, S. A., Kelley, W. N. <strong>Human adenine phosphoribosyltransferase: identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.</strong> J. Clin. Invest. 80: 1409-1415, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3680503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3680503</a>] [<a href="https://doi.org/10.1172/JCI113219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3680503">Hidaka et al. (1987)</a> identified compound heterozygosity for 2 mutations in the APRT gene (<a href="#0001">102600.0001</a> and <a href="#0002">102600.0002</a>). <a href="#11" class="mim-tip-reference" title="Gathof, B. S., Sahota, A., Gresser, U., Chen, J., Stambrook, P. J., Tischfield, J. A., Zollner, N. <strong>Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.</strong> Klin. Wochenschr. 69: 1152-1155, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2135300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2135300</a>] [<a href="https://doi.org/10.1007/BF01815434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2135300">Gathof et al. (1991)</a> identified homozygosity for an APRT mutation (<a href="#0002">102600.0002</a>) in identical twin brothers born to nonconsanguineous German parents with APRT deficiency. In 5 patients from Iceland with complete APRT deficiency, <a href="#3" class="mim-tip-reference" title="Chen, J., Sahota, A., Laxdal, T., Stambrook, P. J., Tischfield, J. A. <strong>Demonstration of a common mutation at the adenine phosphoribosyltransferase (APRT) locus in the Icelandic population. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A152 only, 1990."None>Chen et al. (1990)</a> identified a homozygous mutation in the APRT gene (D65V; <a href="#0004">102600.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3680503+2135300" 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 Japanese, partial deficiency of APRT leads to 2,8-dihydroxyadenine urolithiasis (type II), whereas all Caucasian patients with 2,8-DHA urolithiasis have been completely deficient (type I). <a href="#9" class="mim-tip-reference" title="Fujimori, S., Akaoka, I., Sakamoto, K., Yamanaka, H., Nishioka, K., Kamatani, N. <strong>Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.</strong> Hum. Genet. 71: 171-176, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3876264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3876264</a>] [<a href="https://doi.org/10.1007/BF00283377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3876264">Fujimori et al. (1985)</a> found that partially purified enzyme from Japanese families has a reduced affinity for phosphoribosylpyrophosphate (PRPP), as well as increased resistance to heat and reduced sensitivity to the stabilizing effect of PRPP. They referred to this common Japanese mutant allele as APRT*J. In Japanese patients with APRT deficiency, <a href="#16" class="mim-tip-reference" title="Hidaka, Y., Tarle, S. A., Fujimori, S., Kamatani, N., Kelley, W. N., Palella, T. D. <strong>Human adenine phosphoribosyltransferase deficiency: demonstration of a single mutant allele common to the Japanese.</strong> J. Clin. Invest. 81: 945-950, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3343350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3343350</a>] [<a href="https://doi.org/10.1172/JCI113408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3343350">Hidaka et al. (1988)</a> identified the molecular basis for the APRT*J allele: an M136T (<a href="#0003">102600.0003</a>) substitution in the putative PRPP-binding site. The mutant enzyme showed abnormal kinetics and activity that was less than 10.3% of normal. By a specific cleavage method using cyanogen bromide (BrCN) to identify the M136T allele, <a href="#21" class="mim-tip-reference" title="Kamatani, N., Kuroshima, S., Terai, C., Hidaka, Y., Palella, T. D., Nishioka, K. <strong>Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.</strong> Am. J. Hum. Genet. 45: 325-331, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2502918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2502918</a>]" pmid="2502918">Kamatani et al. (1989)</a> found that 79% of all Japanese patients with APRT deficiency and more than half of the world's patients have this particular mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3876264+3343350+2502918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Hakoda, M., Nishioka, K., Kamatani, N. <strong>Homozygous deficiency at autosomal locus APRT in human somatic cells in vivo induced by two different mechanisms.</strong> Cancer Res. 50: 1738-1741, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2306728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2306728</a>]" pmid="2306728">Hakoda et al. (1990)</a> made the interesting observation that 2-step mutations leading to homozygous deficiencies at the somatic cell level, as proposed by the Knudson hypothesis of carcinogenesis in retinoblastoma (<a href="/entry/180200">180200</a>) and some other human tumors, occur at other autosomal loci. They cloned and enumerated somatic T cells with mutations at the APRT locus by taking advantage of the presence of heterozygous APRT deficiency and an effective selection procedure for homozygosity. They cultured peripheral blood mononuclear cells with 2,6-diaminopurine, an APRT-dependent cytotoxin, to search for in vivo mutational cells. In all 4 heterozygotes studied, homozygously deficient T cells were found, at an average frequency of 1.3 x 10(-4). Among 310 normal persons, <a href="#12" class="mim-tip-reference" title="Hakoda, M., Nishioka, K., Kamatani, N. <strong>Homozygous deficiency at autosomal locus APRT in human somatic cells in vivo induced by two different mechanisms.</strong> Cancer Res. 50: 1738-1741, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2306728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2306728</a>]" pmid="2306728">Hakoda et al. (1990)</a> identified only 1 homozygous APRT-deficient clone, with a calculated frequency of 5.0 x 10(-9). Homozygous cells were found at rather high frequencies in 15 putative heterozygotes, as reported by <a href="#13" class="mim-tip-reference" title="Hakoda, M., Yamanaka, H., Kamatani, N., Kamatani, N. <strong>Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.</strong> Am. J. Hum. Genet. 48: 552-562, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998341</a>]" pmid="1998341">Hakoda et al. (1991)</a>. Analysis of genomic DNA in 82 resistant clones from 2 of the heterozygotes showed that 64 (78%) had lost the germinally intact alleles. This approach may prove useful for identifying heterozygotes for other enzyme deficiencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2306728+1998341" 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="#39" class="mim-tip-reference" title="Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A. <strong>Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.</strong> Molec. Genet. Metab. 68: 78-85, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10479485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10479485</a>] [<a href="https://doi.org/10.1006/mgme.1999.2893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10479485">Wang et al. (1999)</a> described a Czech patient with Morquio syndrome (<a href="/entry/253000">253000</a>) who also had deficiency of APRT leading to 2,8-dihydroxyadenine urolithiasis. They pointed out that both GALNS (<a href="/entry/612222">612222</a>) and APRT are located on 16q24.3, suggesting that the patient had a deletion involving both genes. PCR amplification of genomic DNA indicated that a novel junction was created by the fusion of sequences distal to GALNS exon 2 and proximal to APRT exon 3, and that the size of the deleted region was approximately 100 kb. The deletion breakpoints were localized within GALNS intron 2 and APRT intron 2. Several other genes, including CYBA (<a href="/entry/608508">608508</a>), which is deleted or mutated in an autosomal form of chronic granulomatous disease (<a href="/entry/233690">233690</a>), are located in the 16q24.3 region. However, PCR amplification showed that the CYBA gene was present in the proband. <a href="#10" class="mim-tip-reference" title="Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G. M. M., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Imaizumi, K., Kuroki, Y., Okabe, T., Orii, T. <strong>Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.</strong> Hum. Mutat. 7: 123-134, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8829629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8829629</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8829629">Fukuda et al. (1996)</a> described a Japanese patient with a submicroscopic deletion involving GALNS and APRT in one chromosome and a point mutation (R386C; <a href="/entry/253000#0003">253000.0003</a>) in the other GALNS allele. <a href="#39" class="mim-tip-reference" title="Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A. <strong>Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.</strong> Molec. Genet. Metab. 68: 78-85, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10479485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10479485</a>] [<a href="https://doi.org/10.1006/mgme.1999.2893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10479485">Wang et al. (1999)</a> concluded that these findings indicated that APRT is located telomeric to GALNS, that GALNS and APRT are transcribed in the same orientation (centromeric to telomeric), and that combined APRT/GALNS deficiency may be more common than hitherto realized. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10479485+8829629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Engle, S. J., Stockelman, M. G., Chen, J., Boivin, G., Yum, M.-N., Davies, P. M., Ying, M. Y., Sahota, A., Simmonds, H. A., Stambrook, P. J., Tischfield, J. A. <strong>Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.</strong> Proc. Nat. Acad. Sci. 93: 5307-5312, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8643571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8643571</a>] [<a href="https://doi.org/10.1073/pnas.93.11.5307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8643571">Engle et al. (1996)</a> used targeted homologous recombination in embryonic stem cells to produce mice that lack APRT. Mice homozygous for a null Aprt allele excreted adenine and DHA crystals in their urine. Renal histopathology showed extensive tubular dilation, inflammation, necrosis, and fibrosis that varied in severity between different mouse backgrounds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8643571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912681 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912681;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=rs121912681" 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=rs121912681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a lymphoblastoid cell line from a Caucasian patient in Belgium with complete APRT deficiency (<a href="/entry/614723">614723</a>), <a href="#15" class="mim-tip-reference" title="Hidaka, Y., Palella, T. D., O'Toole, T. E., Tarle, S. A., Kelley, W. N. <strong>Human adenine phosphoribosyltransferase: identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.</strong> J. Clin. Invest. 80: 1409-1415, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3680503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3680503</a>] [<a href="https://doi.org/10.1172/JCI113219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3680503">Hidaka et al. (1987)</a> identified compound heterozygosity for 2 mutations in the APRT gene: a 3-bp deletion (2179delTTC) in exon 4, resulting in the deletion of codon phe173, and a 1-bp insertion (1834insT) immediately adjacent to the splice site at the 5-prime end of intron 4 (<a href="#0002">102600.0002</a>). This insertion led to aberrant splicing, the absence of exon 4, frameshift, and premature termination at amino acid 110. The enzyme activity was less than 1% of normal and the enzyme protein was immunologically undetectable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3680503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281860263 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860263;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/rs281860263?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=rs281860263" 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=rs281860263" 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=RCV000033907" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033907" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033907</a>
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<p>For discussion of the 1-bp insertion in the APRT gene (1834insT) that was found in compound heterozygous state in a lymphoblastoid cell line from a patient with complete APRT deficiency (<a href="/entry/614723">614723</a>) by <a href="#15" class="mim-tip-reference" title="Hidaka, Y., Palella, T. D., O'Toole, T. E., Tarle, S. A., Kelley, W. N. <strong>Human adenine phosphoribosyltransferase: identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.</strong> J. Clin. Invest. 80: 1409-1415, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3680503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3680503</a>] [<a href="https://doi.org/10.1172/JCI113219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3680503">Hidaka et al. (1987)</a>, see <a href="#0001">102600.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3680503" 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 identical twin brothers born to nonconsanguineous German parents with APRT deficiency, <a href="#11" class="mim-tip-reference" title="Gathof, B. S., Sahota, A., Gresser, U., Chen, J., Stambrook, P. J., Tischfield, J. A., Zollner, N. <strong>Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.</strong> Klin. Wochenschr. 69: 1152-1155, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2135300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2135300</a>] [<a href="https://doi.org/10.1007/BF01815434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2135300">Gathof et al. (1991)</a> identified a homozygous 1-bp insertion in the splice donor site of intron 4 of the APRT gene (the numbering system used by <a href="#11" class="mim-tip-reference" title="Gathof, B. S., Sahota, A., Gresser, U., Chen, J., Stambrook, P. J., Tischfield, J. A., Zollner, N. <strong>Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.</strong> Klin. Wochenschr. 69: 1152-1155, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2135300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2135300</a>] [<a href="https://doi.org/10.1007/BF01815434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2135300">Gathof et al. (1991)</a> indicated that the insertion was between bases 1831 and 1832 or 1832 and 1833). The insertion resulted in aberrant splicing. They quoted finding of the same mutation in 2 other Caucasian patients living in the U.S., and as 1 of 2 alleles in a Belgian patient with compound heterozygous APRT mutations (<a href="#15" class="mim-tip-reference" title="Hidaka, Y., Palella, T. D., O'Toole, T. E., Tarle, S. A., Kelley, W. N. <strong>Human adenine phosphoribosyltransferase: identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.</strong> J. Clin. Invest. 80: 1409-1415, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3680503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3680503</a>] [<a href="https://doi.org/10.1172/JCI113219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3680503">Hidaka et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3680503+2135300" 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="#29" class="mim-tip-reference" title="Menardi, C., Schneider, R., Neuschmid-Kaspar, F., Klocker, H., Hirsch-Kauffmann, M., Auer, B., Schweiger, M. <strong>Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.</strong> Hum. Mutat. 10: 251-255, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9298830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9298830</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9298830">Menardi et al. (1997)</a> demonstrated homozygosity for this common T insertion at the exon 4/intron 4 junction, resulting in the lack of exon 4 in the APRT mRNA. This common splice site mutation had always been found in association with a TaqI RFLP, leading to the proposal that this splice site mutation originated from a single event (<a href="#4" class="mim-tip-reference" title="Chen, J., Sahota, A., Martin, G. F., Hakoda, M., Kamatani, N., Stambrook, P. J., Tischfield, J. A. <strong>Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87.</strong> Mutat. Res. 287: 217-225, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7685481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7685481</a>] [<a href="https://doi.org/10.1016/0027-5107(93)90014-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7685481">Chen et al., 1993</a>). However, <a href="#29" class="mim-tip-reference" title="Menardi, C., Schneider, R., Neuschmid-Kaspar, F., Klocker, H., Hirsch-Kauffmann, M., Auer, B., Schweiger, M. <strong>Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.</strong> Hum. Mutat. 10: 251-255, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9298830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9298830</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9298830">Menardi et al. (1997)</a> found a patient with this mutation who was negative for the TaqI RFLP. The position of this T insertion suggested it was a hotspot for mutational events (<a href="#4" class="mim-tip-reference" title="Chen, J., Sahota, A., Martin, G. F., Hakoda, M., Kamatani, N., Stambrook, P. J., Tischfield, J. A. <strong>Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87.</strong> Mutat. Res. 287: 217-225, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7685481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7685481</a>] [<a href="https://doi.org/10.1016/0027-5107(93)90014-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7685481">Chen et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9298830+7685481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28999113 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28999113;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/rs28999113?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=rs28999113" 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=rs28999113" 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=RCV000019958 OR RCV000033908" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019958, RCV000033908" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019958...</a>
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<p>This mutation has been designated APRT*J.</p><p>In Japanese patients with APRT deficiency (<a href="/entry/614723">614723</a>), <a href="#16" class="mim-tip-reference" title="Hidaka, Y., Tarle, S. A., Fujimori, S., Kamatani, N., Kelley, W. N., Palella, T. D. <strong>Human adenine phosphoribosyltransferase deficiency: demonstration of a single mutant allele common to the Japanese.</strong> J. Clin. Invest. 81: 945-950, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3343350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3343350</a>] [<a href="https://doi.org/10.1172/JCI113408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3343350">Hidaka et al. (1988)</a> identified a 2069T-C transition in exon 5 of the APRT gene, resulting in a met136-to-thr (M136T) substitution in the putative PRPP-binding site. The mutant enzyme showed abnormal kinetics and activity that was less than 10.3% of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3343350" 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>By a specific cleavage method using cyanogen bromide (BrCN) to identify the M136T allele, <a href="#21" class="mim-tip-reference" title="Kamatani, N., Kuroshima, S., Terai, C., Hidaka, Y., Palella, T. D., Nishioka, K. <strong>Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.</strong> Am. J. Hum. Genet. 45: 325-331, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2502918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2502918</a>]" pmid="2502918">Kamatani et al. (1989)</a> found that 79% of all Japanese patients with APRT deficiency and more than half of the world's patients have this particular mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2502918" 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="Kamatani, N., Kuroshima, S., Hakoda, M., Palella, T. D., Hidaka, Y. <strong>Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.</strong> Hum. Genet. 85: 600-604, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2227951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2227951</a>] [<a href="https://doi.org/10.1007/BF00193582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2227951">Kamatani et al. (1990)</a> found that 24 of 39 Japanese patients with 2,8-dihydroxyadenine urolithiasis had only APRT*J alleles. They found that normal alleles occur in 4 major haplotypes, whereas all APRT*J alleles occurred in only 2. They interpreted this as meaning that all APRT*J alleles had a single origin and that this mutant sequence has been maintained for a long time, as reflected in the frequency of the recombinant alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2227951" 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="#32" class="mim-tip-reference" title="Sahota, A., Chen, J., Behzadian, M. A., Ravindra, R., Takeuchi, H., Stambrook, P. J., Tischfield, J. A. <strong>2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.</strong> Am. J. Hum. Genet. 48: 983-989, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1673292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1673292</a>]" pmid="1673292">Sahota et al. (1991)</a> described DHA-lithiasis in a Japanese patient with APRT deficiency who was heterozygous for the M136T mutation. Enzyme studies showed decreased overall activity, with decreased affinity for PRPP. Lithiasis had previously only been observed in homozygotes. The polyamine pathway is thought to be the major source of endogenous adenine in man. Whether increased polyamine synthesis could lead to increased adenine production and predispose to DHA-lithiasis in an APRT heterozygote, remained to be determined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1673292" 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>Among 141 defective APRT alleles from 72 different Japanese families, <a href="#19" class="mim-tip-reference" title="Kamatani, N., Hakoda, M., Otsuka, S., Yoshikawa, H., Kashiwazaki, S. <strong>Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.</strong> J. Clin. Invest. 90: 130-135, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353080</a>] [<a href="https://doi.org/10.1172/JCI115825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353080">Kamatani et al. (1992)</a> found the met136-to-thr mutation in 96 (68%). Thirty (21%) and 10 (7%) alleles had the TGG-to-TGA nonsense mutation at codon 98 (<a href="#0005">102600.0005</a>) and duplication of a 4-bp sequence in exon 3 (<a href="#0006">102600.0006</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1353080" 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="#23" class="mim-tip-reference" title="Kamatani, N., Terai, C., Kim, S. Y., Chen, C.-L., Yamanaka, H., Hakoda, M., Totokawa, S., Kashiwazaki, S. <strong>The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.</strong> Hum. Genet. 98: 596-600, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882882</a>] [<a href="https://doi.org/10.1007/s004390050266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8882882">Kamatani et al. (1996)</a> noted that the APRT*J mutation is distributed nearly uniformly on the 4 main islands of Japan and Okinawa, suggesting a very early origin. Among 955 random Japanese blood samples, 7 (0.73%) were heterozygous for the APRT*J mutation. None of 231 Taiwanese samples contained heterozygotes for this mutation, whereas 2 (0.53%) of 356 Korean samples were heterozygous. Since the APRT*J mutation was found in Koreans and Okinawans who shared ancestors only before the Yayoi era (3rd century B.C. to 3rd century A.D.), the origin of the APRT*J mutation predates 300 B.C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8882882" 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 APRT DEFICIENCY</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> rs104894506 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894506;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/rs104894506?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=rs104894506" 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=rs104894506" 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=RCV000033903" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033903" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033903</a>
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<p>In 5 patients from Iceland with complete APRT deficiency (<a href="/entry/614723">614723</a>), <a href="#3" class="mim-tip-reference" title="Chen, J., Sahota, A., Laxdal, T., Stambrook, P. J., Tischfield, J. A. <strong>Demonstration of a common mutation at the adenine phosphoribosyltransferase (APRT) locus in the Icelandic population. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A152 only, 1990."None>Chen et al. (1990)</a> identified a homozygous 1350A-T transversion in exon 3 of the APRT gene, resulting in an asp65-to-val (D65V) substitution. Common ancestry could only be identified for 2 of the cases.</p>
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<strong>.0005 APRT DEFICIENCY</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> rs104894507 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894507;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/rs104894507?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=rs104894507" 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=rs104894507" 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=RCV000033905" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033905" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033905</a>
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<p>In 4 unrelated Japanese individuals with complete APRT deficiency (<a href="/entry/614723">614723</a>), <a href="#30" class="mim-tip-reference" title="Mimori, A., Hidaka, Y., Wu, V. C., Tarle, S. A., Kamatani, N., Kelley, W. N., Pallela, T. D. <strong>A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.</strong> Am. J. Hum. Genet. 48: 103-107, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985452</a>]" pmid="1985452">Mimori et al. (1991)</a> identified a 1453G-A transition in the APRT gene, resulting in a trp98-to-ter (Y98X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1985452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<strong>.0006 APRT DEFICIENCY</strong>
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APRT, 4-BP DUP, EX3
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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> rs281860265 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860265;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/rs281860265?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=rs281860265" 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=rs281860265" 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=RCV000033904" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033904" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033904</a>
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<p>Among 141 defective APRT alleles from 72 different Japanese families with APRT deficiency (<a href="/entry/614723">614723</a>), <a href="#19" class="mim-tip-reference" title="Kamatani, N., Hakoda, M., Otsuka, S., Yoshikawa, H., Kashiwazaki, S. <strong>Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.</strong> J. Clin. Invest. 90: 130-135, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353080</a>] [<a href="https://doi.org/10.1172/JCI115825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353080">Kamatani et al. (1992)</a> found that 10 (7%) had duplication of a CCGA sequence in exon 3. The duplication resulted in an APRT*Q0 (null) allele. Two other alleles, APRT*J (<a href="#0003">102600.0003</a>) and trp98-to-ter (Y98X; <a href="#0005">102600.0005</a>), accounted for 68% and 21% mutant alleles, respectively. The different alleles with the same mutation had the same haplotype, except for APRT*J. Evidence for a crossover or a gene conversion event within the APRT gene was observed in an APRT*J mutant allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1353080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<strong>.0007 APRT DEFICIENCY</strong>
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APRT, LEU110PRO
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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> rs104894508 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894508;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/rs104894508?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=rs104894508" 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=rs104894508" 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=RCV000019962" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019962" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019962</a>
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<p>In 2 sisters from Newfoundland with APRT deficiency (<a href="/entry/614723">614723</a>), <a href="#33" class="mim-tip-reference" title="Sahota, A., Chen, J., Boyadijev, S. A., Gault, M. H., Tischfield, J. A. <strong>Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.</strong> Hum. Molec. Genet. 3: 817-818, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7915931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7915931</a>] [<a href="https://doi.org/10.1093/hmg/3.5.817" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7915931">Sahota et al. (1994)</a> identified a homozygous mutation in the APRT gene, resulting in a leu110-to-pro (L110P) substitution. One of the sisters exhibited 2,8-dihydroxyadenine urolithiasis, whereas the other was disease-free. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7915931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<strong>.0008 APRT DEFICIENCY</strong>
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APRT, 254-BP DEL AND 8-BP INS
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019963 OR RCV005089284" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019963, RCV005089284" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019963...</a>
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<p>In a Caucasian patient with complete APRT deficiency (<a href="/entry/614723">614723</a>), <a href="#29" class="mim-tip-reference" title="Menardi, C., Schneider, R., Neuschmid-Kaspar, F., Klocker, H., Hirsch-Kauffmann, M., Auer, B., Schweiger, M. <strong>Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.</strong> Hum. Mutat. 10: 251-255, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9298830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9298830</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9298830">Menardi et al. (1997)</a> found compound heterozygosity for 2 mutations in the APRT gene: a common T insertion at the IVS4 splice donor site (<a href="#0002">102600.0002</a>) and a novel complex mutation involving simultaneous deletion/insertion and repair events. The second mutation involved a deletion of 254 bp and an insertion of 8 bp exactly at the site of the deletion. Downstream of the mutations, <a href="#29" class="mim-tip-reference" title="Menardi, C., Schneider, R., Neuschmid-Kaspar, F., Klocker, H., Hirsch-Kauffmann, M., Auer, B., Schweiger, M. <strong>Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.</strong> Hum. Mutat. 10: 251-255, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9298830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9298830</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9298830">Menardi et al. (1997)</a> found a 14-bp sequence of inverse complementary to this insertion and 6 flanking nucleotides. A more detailed analysis of the region where the deletion had occurred revealed several informative sequence features suitable to explain how the mutation took place. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9298830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 APRT DEFICIENCY</strong>
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</h4>
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APRT, TER-SER
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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> rs387906584 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906584;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/rs387906584?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=rs387906584" 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=rs387906584" 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=RCV000019964" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019964" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019964</a>
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<span class="mim-text-font">
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<p>In a Japanese man with APRT deficiency (<a href="/entry/614723">614723</a>), <a href="#37" class="mim-tip-reference" title="Taniguchi, A., Hakoda, M., Yamanaka, H., Terai, C., Hikiji, K., Kawaguchi, R., Konishi, N., Kashiwazaki, S., Kamatani, N. <strong>A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein.</strong> Hum. Genet. 102: 197-202, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9521589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9521589</a>] [<a href="https://doi.org/10.1007/s004390050677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9521589">Taniguchi et al. (1998)</a> found that the physiologic stop codon of the gene, TGA, was replaced by TCA. This base substitution generated a new HinfI restriction site, and, using PCR and subsequent digestion by this enzyme, they could confirm that the patient was homozygous for the base substitution. The amount of mRNA in transformed B cells was approximately one-quarter of that in control subjects, and no APRT proteins were detected. In eukaryotes, unlike prokaryotes, no rescue systems for defective polypeptide termination caused by a missing stop codon have been found. Therefore, the outcome of the defect in this patient was unclear from present knowledge about termination of polypeptide synthesis. The stop codon was changed to a serine codon and the reading frame was extended to the poly(A) addition site. The poly(A) signal AGTAAA is located 213 nucleotides downstream of the physiologic stop codon, but there are no stop codons between them (<a href="#2" class="mim-tip-reference" title="Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., Stambrook, P. J. <strong>Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.</strong> Proc. Nat. Acad. Sci. 84: 3349-3353, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3554238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3554238</a>] [<a href="https://doi.org/10.1073/pnas.84.10.3349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3554238">Broderick et al., 1987</a>). The patient developed pseudoarthrosis after a traumatic broken arm, and was found to have increased serum creatinine and 2,8-dihydroxyadenine crystals in his urine. Imaging showed a small right kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9521589+3554238" 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="#Doppler1981" class="mim-tip-reference" title="Doppler, W., Hirsch-Kauffmann, M., Schabel, F., Schweiger, M. <strong>Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT).</strong> Hum. Genet. 57: 404-410, 1981.">Doppler et al. (1981)</a>; <a href="#Johnson1977" class="mim-tip-reference" title="Johnson, L. A., Gordon, R. B., Emmerson, B. T. <strong>Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population.</strong> Biochem. Genet. 15: 265-272, 1977.">Johnson et al. (1977)</a>; <a href="#Kamatani1987" class="mim-tip-reference" title="Kamatani, N., Terai, C., Kuroshima, S., Nishioka, K., Mikanagi, K. <strong>Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.</strong> Hum. Genet. 75: 163-168, 1987.">Kamatani et al. (1987)</a>; <a href="#Kamatani1987" class="mim-tip-reference" title="Kamatani, N., Terai, C., Kuroshima, S., Nishioka, K., Mikanagi, K. <strong>Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.</strong> Hum. Genet. 75: 163-168, 1987.">Kamatani et al. (1987)</a>; <a href="#Lester1980" class="mim-tip-reference" title="Lester, S. C., LeVan, S. K., Steglich, C., DeMars, R. <strong>Expression of human genes of adenine phosphoribosyltransferase and hypoxanthine-guanine phosphoribosyltransferase after genetic transformation of mouse cells with purified human DNA.</strong> Somat. Cell Genet. 6: 241-259, 1980.">Lester et al. (1980)</a>; <a href="#Nesterova1987" class="mim-tip-reference" title="Nesterova, T. B., Borodin, P. M., Zakian, S. M., Serov, O. L. <strong>Assignment of the gene for adenine phosphoribosyltransferase on the genetic map of mouse chromosome 8.</strong> Biochem. Genet. 25: 563-568, 1987.">Nesterova et al.
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(1987)</a>; <a href="#Sahota2001">Sahota et al. (2001)</a>; <a href="#Simon1983" class="mim-tip-reference" title="Simon, A. E., Taylor, M. W. <strong>High-frequency mutation at the adenine phosphoribosyltransferase locus in Chinese hamster ovary cells due to deletion of the gene.</strong> Proc. Nat. Acad. Sci. 80: 810-814, 1983.">Simon and Taylor (1983)</a>; <a href="#Takeuchi1985" class="mim-tip-reference" title="Takeuchi, F., Matsuta, K., Miyamoto, T., Enomoto, S., Fujimori, S., Akaoka, I., Kamatani, N., Nishioka, K. <strong>Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.</strong> Hum. Genet. 71: 167-170, 1985.">Takeuchi et
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al. (1985)</a>
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Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., Stambrook, P. J.
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<strong>Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.</strong>
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Proc. Nat. Acad. Sci. 84: 3349-3353, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3554238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3554238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3554238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Demonstration of a common mutation at the adenine phosphoribosyltransferase (APRT) locus in the Icelandic population. (Abstract)</strong>
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Am. J. Hum. Genet. 47 (suppl.): A152 only, 1990.
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<strong>Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7685481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7685481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7685481" 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/10.1016/0027-5107(93)90014-7" target="_blank">Full Text</a>]
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<a id="Doppler1981" class="mim-anchor"></a>
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Doppler, W., Hirsch-Kauffmann, M., Schabel, F., Schweiger, M.
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<strong>Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT).</strong>
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Hum. Genet. 57: 404-410, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7286981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7286981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7286981" 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/BF00281694" target="_blank">Full Text</a>]
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Engle, S. J., Stockelman, M. G., Chen, J., Boivin, G., Yum, M.-N., Davies, P. M., Ying, M. Y., Sahota, A., Simmonds, H. A., Stambrook, P. J., Tischfield, J. A.
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<strong>Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.</strong>
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[<a href="https://doi.org/10.1073/pnas.93.11.5307" target="_blank">Full Text</a>]
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<strong>Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16 and 17.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6360556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6360556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6360556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fratini, A., Simmers, R. N., Callen, D. F., Hyland, V. J., Tischfield, J. A., Stambrook, P. J., Sutherland, G. R.
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<strong>A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23) (FRA16D) loci.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3780312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3780312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3780312" 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/10.1159/000132291" target="_blank">Full Text</a>]
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Fujimori, S., Akaoka, I., Sakamoto, K., Yamanaka, H., Nishioka, K., Kamatani, N.
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<strong>Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.</strong>
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Hum. Genet. 71: 171-176, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3876264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3876264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3876264" 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/BF00283377" target="_blank">Full Text</a>]
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Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G. M. M., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Imaizumi, K., Kuroki, Y., Okabe, T., Orii, T.
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<strong>Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.</strong>
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Hum. Mutat. 7: 123-134, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8829629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8829629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8829629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D" target="_blank">Full Text</a>]
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Gathof, B. S., Sahota, A., Gresser, U., Chen, J., Stambrook, P. J., Tischfield, J. A., Zollner, N.
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<strong>Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.</strong>
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Klin. Wochenschr. 69: 1152-1155, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2135300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2135300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2135300" 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/BF01815434" target="_blank">Full Text</a>]
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Hakoda, M., Nishioka, K., Kamatani, N.
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<strong>Homozygous deficiency at autosomal locus APRT in human somatic cells in vivo induced by two different mechanisms.</strong>
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Cancer Res. 50: 1738-1741, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2306728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2306728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2306728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hakoda, M., Yamanaka, H., Kamatani, N., Kamatani, N.
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<strong>Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.</strong>
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Am. J. Hum. Genet. 48: 552-562, 1991.
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<strong>Human adenine phosphoribosyltransferase: identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.</strong>
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[<a href="https://doi.org/10.1172/JCI113219" target="_blank">Full Text</a>]
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<strong>Human adenine phosphoribosyltransferase deficiency: demonstration of a single mutant allele common to the Japanese.</strong>
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[<a href="https://doi.org/10.1172/JCI113408" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/15.21.9086" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00484458" target="_blank">Full Text</a>]
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<strong>Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.</strong>
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[<a href="https://doi.org/10.1172/JCI115825" target="_blank">Full Text</a>]
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<strong>Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.</strong>
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[<a href="https://doi.org/10.1007/BF00193582" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00284912" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390050266" target="_blank">Full Text</a>]
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<strong>Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.</strong>
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[<a href="https://doi.org/10.1007/BF00591080" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI105913" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01538799" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/256204a0" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3447590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3447590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3447590" 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/BF00554357" target="_blank">Full Text</a>]
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</p>
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<a id="32" class="mim-anchor"></a>
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<a id="Sahota1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sahota, A., Chen, J., Behzadian, M. A., Ravindra, R., Takeuchi, H., Stambrook, P. J., Tischfield, J. A.
|
|
<strong>2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.</strong>
|
|
Am. J. Hum. Genet. 48: 983-989, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1673292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1673292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1673292" 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="33" class="mim-anchor"></a>
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<a id="Sahota1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sahota, A., Chen, J., Boyadijev, S. A., Gault, M. H., Tischfield, J. A.
|
|
<strong>Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.</strong>
|
|
Hum. Molec. Genet. 3: 817-818, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7915931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7915931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7915931" 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/3.5.817" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Sahota2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sahota, A. S., Tischfield, J. A., Kamatani, N., Simmonds, H. A.
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|
<strong>Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
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New York: McGraw-Hill 2001. Pp. 2571-2583.
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</p>
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</div>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Simon1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Simon, A. E., Taylor, M. W.
|
|
<strong>High-frequency mutation at the adenine phosphoribosyltransferase locus in Chinese hamster ovary cells due to deletion of the gene.</strong>
|
|
Proc. Nat. Acad. Sci. 80: 810-814, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6572371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6572371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6572371" 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.80.3.810" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Takeuchi1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takeuchi, F., Matsuta, K., Miyamoto, T., Enomoto, S., Fujimori, S., Akaoka, I., Kamatani, N., Nishioka, K.
|
|
<strong>Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.</strong>
|
|
Hum. Genet. 71: 167-170, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4043967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4043967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4043967" 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/BF00283376" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Taniguchi1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Taniguchi, A., Hakoda, M., Yamanaka, H., Terai, C., Hikiji, K., Kawaguchi, R., Konishi, N., Kashiwazaki, S., Kamatani, N.
|
|
<strong>A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein.</strong>
|
|
Hum. Genet. 102: 197-202, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9521589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9521589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9521589" 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/s004390050677" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="38" class="mim-anchor"></a>
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<a id="Tischfield1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tischfield, J. A., Ruddle, F. H.
|
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<strong>Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization.</strong>
|
|
Proc. Nat. Acad. Sci. 71: 45-49, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4129802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4129802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4129802" 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.71.1.45" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="39" class="mim-anchor"></a>
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<a id="Wang1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A.
|
|
<strong>Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.</strong>
|
|
Molec. Genet. Metab. 68: 78-85, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10479485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10479485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10479485" 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/mgme.1999.2893" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="40" class="mim-anchor"></a>
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<a id="Wilson1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, J. M., O'Toole, T. E., Argos, P., Shewach, D. S., Daddona, P. E., Kelley, W. N.
|
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<strong>Human adenine phosphoribosyltransferase: complete amino acid sequence of the erythrocyte enzyme.</strong>
|
|
J. Biol. Chem. 261: 13677-13683, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3531209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3531209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3531209" 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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</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">
|
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<span class="mim-text-font">
|
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Cassandra L. Kniffin - updated : 9/19/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 1/6/2000<br>Victor A. McKusick - updated : 4/25/1998<br>Victor A. McKusick - updated : 4/1/1998<br>Victor A. McKusick - updated : 10/10/1997
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/06/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/04/2023<br>carol : 07/09/2016<br>mcolton : 8/3/2015<br>carol : 9/18/2013<br>carol : 9/20/2012<br>ckniffin : 9/19/2012<br>carol : 4/22/2011<br>wwang : 12/28/2009<br>carol : 3/24/2009<br>carol : 3/23/2009<br>ckniffin : 9/24/2008<br>carol : 8/27/2008<br>alopez : 2/3/2006<br>terry : 5/17/2005<br>carol : 3/17/2004<br>ckniffin : 3/12/2004<br>cwells : 11/10/2003<br>mcapotos : 11/30/2000<br>terry : 10/6/2000<br>mgross : 1/11/2000<br>terry : 1/6/2000<br>terry : 4/29/1999<br>carol : 11/10/1998<br>alopez : 5/14/1998<br>carol : 5/2/1998<br>terry : 4/25/1998<br>alopez : 4/1/1998<br>terry : 3/23/1998<br>terry : 3/20/1998<br>jenny : 10/17/1997<br>terry : 10/10/1997<br>alopez : 6/3/1997<br>alopez : 5/13/1997<br>terry : 5/6/1997<br>carol : 7/6/1996<br>mark : 6/24/1996<br>terry : 6/12/1996<br>carol : 5/18/1996<br>mark : 1/17/1996<br>mark : 1/17/1996<br>pfoster : 11/29/1994<br>mimadm : 4/14/1994<br>warfield : 4/6/1994<br>carol : 7/9/1993<br>carol : 2/17/1993<br>carol : 10/28/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 102600
|
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</span>
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</h3>
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</div>
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<div>
|
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<h3>
|
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<span class="mim-font">
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|
ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: APRT</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 124274002, 65791008;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 16q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:88,809,339-88,811,928 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
16q24.3
|
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</span>
|
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</td>
|
|
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|
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<td>
|
|
<span class="mim-font">
|
|
Adenine phosphoribosyltransferase deficiency
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
614723
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The APRT gene encodes adenine phosphoribosyltransferase (EC 2.4.2.7), an enzyme that catalyzes the formation of AMP from adenine and phosphoribosylpyrophosphate. APRT acts as a salvage enzyme for the recycling of adenine into nucleic acids (summary by Broderick et al., 1987). </p>
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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>Wilson et al. (1986) determined the amino acid sequence of the APRT protein. The enzyme has 179 residues with a calculated molecular weight of 19.5 kD. </p><p>Broderick et al. (1987) determined the nucleotide sequence of the human APRT gene. The APRT gene encodes a 180-amino acid protein (Tischfield and Ruddle, 1974). Comparative analysis by Broderick et al. (1987) showed that the amino acid sequence is highly conserved: the human protein was 82% and 90% identical to the mouse and hamster sequences, respectively. The gene is constitutively expressed and subject to little, if any, regulation. </p><p>Hidaka et al. (1987) prepared a complete sequence of the APRT gene and found a number of discrepancies from the sequence reported by Broderick et al. (1987), all occurring within noncoding regions. </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>Broderick et al. (1987) determined that the APRT gene is about 2.6 kb long and contains 5 exons. The promoter region of the human APRT gene, like that of several other housekeeping genes, lacks the 'TATA' and 'CCAAT' boxes but contains 5 GC boxes that are potential binding sites for the Sp1 transcription factor. Broderick et al. (1987) found that CpG dinucleotides in the APRT gene in species as widely separated in evolution as man, mouse, hamster, and E. coli were conserved at a frequency higher than expected on the basis of randomness considering the G+C content of the gene. This suggested some importance of this sequence to the function of the gene. Although the intron 1 sequences of mouse and man had no apparent homology, both had retained a very high CpG content. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By cell hybridization studies, Tischfield and Ruddle (1974) concluded that the APRT locus is on chromosome 16. Marimo and Giannelli (1975) confirmed this assignment by demonstrating a 1.69-fold increase in enzyme level in trisomy 16 cells. The same cells showed no difference in the levels of HGPRT (308000), G6PD (305900) or adenosine kinase (102750) from controls. </p><p>Barg et al. (1982) assigned APRT to chromosome 16pter-q12. Lavinha et al. (1984) assigned APRT and DIA4 (125860) to 16q12-q22 by study of rearranged chromosomes 16 in somatic cell hybrids. For APRT, Ferguson-Smith and Cox (1984) found a smallest region of overlap (SRO) of 16q22.2-q22.3. </p><p>Fratini et al. (1986) mapped the APRT locus with respect to the HP (140100) locus and the fragile site at 16q23.2 (FRA16D). A subclone of the APRT gene and a cDNA clone of HP were used for molecular hybridization to DNA from mouse-human hybrid cell lines containing specific chromosome 16 translocations. The APRT subclone was used for in situ hybridization to chromosomes expressing FRA16D. APRT was found to be distal to HP and FRA16D and was localized at 16q24, making the gene order cen--FRA16B--HP--FRA16D--APRT--qter. </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>Mutant forms of adenine phosphoribosyltransferase resulting in enzyme deficiency (APRTD; 614723) were described by Kelley et al. (1968) and by Henderson et al. (1969), who found the inheritance to be autosomal. A heat-stable enzyme allele had a frequency of about 15% and the heat-labile enzyme allele a frequency of about 85%. Kelley et al. (1968) found apparent heterozygosity in 4 persons in 3 generations of a family. However, the level of enzyme activity ranged from 21 to 37%, not 50%. </p><p>In a lymphoblastoid cell line from a Caucasian patient in Belgium with complete APRT deficiency (614723), Hidaka et al. (1987) identified compound heterozygosity for 2 mutations in the APRT gene (102600.0001 and 102600.0002). Gathof et al. (1991) identified homozygosity for an APRT mutation (102600.0002) in identical twin brothers born to nonconsanguineous German parents with APRT deficiency. In 5 patients from Iceland with complete APRT deficiency, Chen et al. (1990) identified a homozygous mutation in the APRT gene (D65V; 102600.0004). </p><p>In Japanese, partial deficiency of APRT leads to 2,8-dihydroxyadenine urolithiasis (type II), whereas all Caucasian patients with 2,8-DHA urolithiasis have been completely deficient (type I). Fujimori et al. (1985) found that partially purified enzyme from Japanese families has a reduced affinity for phosphoribosylpyrophosphate (PRPP), as well as increased resistance to heat and reduced sensitivity to the stabilizing effect of PRPP. They referred to this common Japanese mutant allele as APRT*J. In Japanese patients with APRT deficiency, Hidaka et al. (1988) identified the molecular basis for the APRT*J allele: an M136T (102600.0003) substitution in the putative PRPP-binding site. The mutant enzyme showed abnormal kinetics and activity that was less than 10.3% of normal. By a specific cleavage method using cyanogen bromide (BrCN) to identify the M136T allele, Kamatani et al. (1989) found that 79% of all Japanese patients with APRT deficiency and more than half of the world's patients have this particular mutation. </p><p>Hakoda et al. (1990) made the interesting observation that 2-step mutations leading to homozygous deficiencies at the somatic cell level, as proposed by the Knudson hypothesis of carcinogenesis in retinoblastoma (180200) and some other human tumors, occur at other autosomal loci. They cloned and enumerated somatic T cells with mutations at the APRT locus by taking advantage of the presence of heterozygous APRT deficiency and an effective selection procedure for homozygosity. They cultured peripheral blood mononuclear cells with 2,6-diaminopurine, an APRT-dependent cytotoxin, to search for in vivo mutational cells. In all 4 heterozygotes studied, homozygously deficient T cells were found, at an average frequency of 1.3 x 10(-4). Among 310 normal persons, Hakoda et al. (1990) identified only 1 homozygous APRT-deficient clone, with a calculated frequency of 5.0 x 10(-9). Homozygous cells were found at rather high frequencies in 15 putative heterozygotes, as reported by Hakoda et al. (1991). Analysis of genomic DNA in 82 resistant clones from 2 of the heterozygotes showed that 64 (78%) had lost the germinally intact alleles. This approach may prove useful for identifying heterozygotes for other enzyme deficiencies. </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>Cytogenetics</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>Wang et al. (1999) described a Czech patient with Morquio syndrome (253000) who also had deficiency of APRT leading to 2,8-dihydroxyadenine urolithiasis. They pointed out that both GALNS (612222) and APRT are located on 16q24.3, suggesting that the patient had a deletion involving both genes. PCR amplification of genomic DNA indicated that a novel junction was created by the fusion of sequences distal to GALNS exon 2 and proximal to APRT exon 3, and that the size of the deleted region was approximately 100 kb. The deletion breakpoints were localized within GALNS intron 2 and APRT intron 2. Several other genes, including CYBA (608508), which is deleted or mutated in an autosomal form of chronic granulomatous disease (233690), are located in the 16q24.3 region. However, PCR amplification showed that the CYBA gene was present in the proband. Fukuda et al. (1996) described a Japanese patient with a submicroscopic deletion involving GALNS and APRT in one chromosome and a point mutation (R386C; 253000.0003) in the other GALNS allele. Wang et al. (1999) concluded that these findings indicated that APRT is located telomeric to GALNS, that GALNS and APRT are transcribed in the same orientation (centromeric to telomeric), and that combined APRT/GALNS deficiency may be more common than hitherto realized. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Engle et al. (1996) used targeted homologous recombination in embryonic stem cells to produce mice that lack APRT. Mice homozygous for a null Aprt allele excreted adenine and DHA crystals in their urine. Renal histopathology showed extensive tubular dilation, inflammation, necrosis, and fibrosis that varied in severity between different mouse backgrounds. </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>9 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 APRT DEFICIENCY</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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APRT, 3-BP DEL, 2179TTC
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<br />
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SNP: rs121912681,
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ClinVar: RCV000019956, RCV002251916, RCV003546458
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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 lymphoblastoid cell line from a Caucasian patient in Belgium with complete APRT deficiency (614723), Hidaka et al. (1987) identified compound heterozygosity for 2 mutations in the APRT gene: a 3-bp deletion (2179delTTC) in exon 4, resulting in the deletion of codon phe173, and a 1-bp insertion (1834insT) immediately adjacent to the splice site at the 5-prime end of intron 4 (102600.0002). This insertion led to aberrant splicing, the absence of exon 4, frameshift, and premature termination at amino acid 110. The enzyme activity was less than 1% of normal and the enzyme protein was immunologically undetectable. </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 APRT DEFICIENCY</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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APRT, 1-BP INS, 1834T
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<br />
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SNP: rs281860263,
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gnomAD: rs281860263,
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ClinVar: RCV000033907
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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>For discussion of the 1-bp insertion in the APRT gene (1834insT) that was found in compound heterozygous state in a lymphoblastoid cell line from a patient with complete APRT deficiency (614723) by Hidaka et al. (1987), see 102600.0001. </p><p>In identical twin brothers born to nonconsanguineous German parents with APRT deficiency, Gathof et al. (1991) identified a homozygous 1-bp insertion in the splice donor site of intron 4 of the APRT gene (the numbering system used by Gathof et al. (1991) indicated that the insertion was between bases 1831 and 1832 or 1832 and 1833). The insertion resulted in aberrant splicing. They quoted finding of the same mutation in 2 other Caucasian patients living in the U.S., and as 1 of 2 alleles in a Belgian patient with compound heterozygous APRT mutations (Hidaka et al., 1987). </p><p>Menardi et al. (1997) demonstrated homozygosity for this common T insertion at the exon 4/intron 4 junction, resulting in the lack of exon 4 in the APRT mRNA. This common splice site mutation had always been found in association with a TaqI RFLP, leading to the proposal that this splice site mutation originated from a single event (Chen et al., 1993). However, Menardi et al. (1997) found a patient with this mutation who was negative for the TaqI RFLP. The position of this T insertion suggested it was a hotspot for mutational events (Chen et al., 1993). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 APRT DEFICIENCY, JAPANESE TYPE</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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APRT, MET136THR
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<br />
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SNP: rs28999113,
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gnomAD: rs28999113,
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ClinVar: RCV000019958, RCV000033908
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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>This mutation has been designated APRT*J.</p><p>In Japanese patients with APRT deficiency (614723), Hidaka et al. (1988) identified a 2069T-C transition in exon 5 of the APRT gene, resulting in a met136-to-thr (M136T) substitution in the putative PRPP-binding site. The mutant enzyme showed abnormal kinetics and activity that was less than 10.3% of normal. </p><p>By a specific cleavage method using cyanogen bromide (BrCN) to identify the M136T allele, Kamatani et al. (1989) found that 79% of all Japanese patients with APRT deficiency and more than half of the world's patients have this particular mutation. </p><p>Kamatani et al. (1990) found that 24 of 39 Japanese patients with 2,8-dihydroxyadenine urolithiasis had only APRT*J alleles. They found that normal alleles occur in 4 major haplotypes, whereas all APRT*J alleles occurred in only 2. They interpreted this as meaning that all APRT*J alleles had a single origin and that this mutant sequence has been maintained for a long time, as reflected in the frequency of the recombinant alleles. </p><p>Sahota et al. (1991) described DHA-lithiasis in a Japanese patient with APRT deficiency who was heterozygous for the M136T mutation. Enzyme studies showed decreased overall activity, with decreased affinity for PRPP. Lithiasis had previously only been observed in homozygotes. The polyamine pathway is thought to be the major source of endogenous adenine in man. Whether increased polyamine synthesis could lead to increased adenine production and predispose to DHA-lithiasis in an APRT heterozygote, remained to be determined. </p><p>Among 141 defective APRT alleles from 72 different Japanese families, Kamatani et al. (1992) found the met136-to-thr mutation in 96 (68%). Thirty (21%) and 10 (7%) alleles had the TGG-to-TGA nonsense mutation at codon 98 (102600.0005) and duplication of a 4-bp sequence in exon 3 (102600.0006), respectively. </p><p>Kamatani et al. (1996) noted that the APRT*J mutation is distributed nearly uniformly on the 4 main islands of Japan and Okinawa, suggesting a very early origin. Among 955 random Japanese blood samples, 7 (0.73%) were heterozygous for the APRT*J mutation. None of 231 Taiwanese samples contained heterozygotes for this mutation, whereas 2 (0.53%) of 356 Korean samples were heterozygous. Since the APRT*J mutation was found in Koreans and Okinawans who shared ancestors only before the Yayoi era (3rd century B.C. to 3rd century A.D.), the origin of the APRT*J mutation predates 300 B.C. </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>.0004 APRT DEFICIENCY</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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APRT, ASP65VAL
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<br />
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SNP: rs104894506,
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gnomAD: rs104894506,
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ClinVar: RCV000033903
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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 5 patients from Iceland with complete APRT deficiency (614723), Chen et al. (1990) identified a homozygous 1350A-T transversion in exon 3 of the APRT gene, resulting in an asp65-to-val (D65V) substitution. Common ancestry could only be identified for 2 of the cases.</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>.0005 APRT DEFICIENCY</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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APRT, TRP98TER
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<br />
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SNP: rs104894507,
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gnomAD: rs104894507,
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ClinVar: RCV000033905
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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 4 unrelated Japanese individuals with complete APRT deficiency (614723), Mimori et al. (1991) identified a 1453G-A transition in the APRT gene, resulting in a trp98-to-ter (Y98X) substitution. </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>.0006 APRT DEFICIENCY</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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APRT, 4-BP DUP, EX3
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<br />
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SNP: rs281860265,
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gnomAD: rs281860265,
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ClinVar: RCV000033904
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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>Among 141 defective APRT alleles from 72 different Japanese families with APRT deficiency (614723), Kamatani et al. (1992) found that 10 (7%) had duplication of a CCGA sequence in exon 3. The duplication resulted in an APRT*Q0 (null) allele. Two other alleles, APRT*J (102600.0003) and trp98-to-ter (Y98X; 102600.0005), accounted for 68% and 21% mutant alleles, respectively. The different alleles with the same mutation had the same haplotype, except for APRT*J. Evidence for a crossover or a gene conversion event within the APRT gene was observed in an APRT*J mutant allele. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 APRT DEFICIENCY</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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APRT, LEU110PRO
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<br />
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SNP: rs104894508,
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gnomAD: rs104894508,
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ClinVar: RCV000019962
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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 2 sisters from Newfoundland with APRT deficiency (614723), Sahota et al. (1994) identified a homozygous mutation in the APRT gene, resulting in a leu110-to-pro (L110P) substitution. One of the sisters exhibited 2,8-dihydroxyadenine urolithiasis, whereas the other was disease-free. </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>.0008 APRT DEFICIENCY</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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APRT, 254-BP DEL AND 8-BP INS
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<br />
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ClinVar: RCV000019963, RCV005089284
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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 Caucasian patient with complete APRT deficiency (614723), Menardi et al. (1997) found compound heterozygosity for 2 mutations in the APRT gene: a common T insertion at the IVS4 splice donor site (102600.0002) and a novel complex mutation involving simultaneous deletion/insertion and repair events. The second mutation involved a deletion of 254 bp and an insertion of 8 bp exactly at the site of the deletion. Downstream of the mutations, Menardi et al. (1997) found a 14-bp sequence of inverse complementary to this insertion and 6 flanking nucleotides. A more detailed analysis of the region where the deletion had occurred revealed several informative sequence features suitable to explain how the mutation took place. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 APRT DEFICIENCY</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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APRT, TER-SER
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<br />
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SNP: rs387906584,
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gnomAD: rs387906584,
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ClinVar: RCV000019964
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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 Japanese man with APRT deficiency (614723), Taniguchi et al. (1998) found that the physiologic stop codon of the gene, TGA, was replaced by TCA. This base substitution generated a new HinfI restriction site, and, using PCR and subsequent digestion by this enzyme, they could confirm that the patient was homozygous for the base substitution. The amount of mRNA in transformed B cells was approximately one-quarter of that in control subjects, and no APRT proteins were detected. In eukaryotes, unlike prokaryotes, no rescue systems for defective polypeptide termination caused by a missing stop codon have been found. Therefore, the outcome of the defect in this patient was unclear from present knowledge about termination of polypeptide synthesis. The stop codon was changed to a serine codon and the reading frame was extended to the poly(A) addition site. The poly(A) signal AGTAAA is located 213 nucleotides downstream of the physiologic stop codon, but there are no stop codons between them (Broderick et al., 1987). The patient developed pseudoarthrosis after a traumatic broken arm, and was found to have increased serum creatinine and 2,8-dihydroxyadenine crystals in his urine. Imaging showed a small right kidney. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Doppler et al. (1981); Johnson et al. (1977); Kamatani et al. (1987);
|
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Kamatani et al. (1987); Lester et al. (1980); Nesterova et al.
|
|
(1987); Sahota et al. (2001); Simon and Taylor (1983); Takeuchi et
|
|
al. (1985)
|
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Barg, R., Barton, P., Caine, A., Clements, R. L., Ferguson-Smith, M. A., Malcolm, S., Morrison, N., Murphy, C. S.
|
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<strong>Regional localization of the human alpha-globin gene to the short arm of chromosome 16 (16p12-pter) using both somatic cell hybrids and in situ hybridization.</strong>
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Cytogenet. Cell Genet. 32: 252-253, 1982.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., Stambrook, P. J.
|
|
<strong>Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 3349-3353, 1987.
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[PubMed: 3554238]
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[Full Text: https://doi.org/10.1073/pnas.84.10.3349]
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Chen, J., Sahota, A., Laxdal, T., Stambrook, P. J., Tischfield, J. A.
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<strong>Demonstration of a common mutation at the adenine phosphoribosyltransferase (APRT) locus in the Icelandic population. (Abstract)</strong>
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Am. J. Hum. Genet. 47 (suppl.): A152 only, 1990.
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</p>
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Chen, J., Sahota, A., Martin, G. F., Hakoda, M., Kamatani, N., Stambrook, P. J., Tischfield, J. A.
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<strong>Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87.</strong>
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Mutat. Res. 287: 217-225, 1993.
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[PubMed: 7685481]
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[Full Text: https://doi.org/10.1016/0027-5107(93)90014-7]
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</p>
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<li>
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<p class="mim-text-font">
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Doppler, W., Hirsch-Kauffmann, M., Schabel, F., Schweiger, M.
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<strong>Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT).</strong>
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Hum. Genet. 57: 404-410, 1981.
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[PubMed: 7286981]
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[Full Text: https://doi.org/10.1007/BF00281694]
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<li>
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<p class="mim-text-font">
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Engle, S. J., Stockelman, M. G., Chen, J., Boivin, G., Yum, M.-N., Davies, P. M., Ying, M. Y., Sahota, A., Simmonds, H. A., Stambrook, P. J., Tischfield, J. A.
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|
<strong>Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.</strong>
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Proc. Nat. Acad. Sci. 93: 5307-5312, 1996.
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[PubMed: 8643571]
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[Full Text: https://doi.org/10.1073/pnas.93.11.5307]
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Ferguson-Smith, M. A., Cox, D. R.
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<strong>Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16 and 17.</strong>
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Cytogenet. Cell Genet. 37: 127-154, 1984.
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[PubMed: 6360556]
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[Full Text: https://doi.org/10.1159/000132007]
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</p>
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<li>
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<p class="mim-text-font">
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Fratini, A., Simmers, R. N., Callen, D. F., Hyland, V. J., Tischfield, J. A., Stambrook, P. J., Sutherland, G. R.
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<strong>A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23) (FRA16D) loci.</strong>
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Cytogenet. Cell Genet. 43: 10-13, 1986.
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[PubMed: 3780312]
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[Full Text: https://doi.org/10.1159/000132291]
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</p>
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<li>
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<p class="mim-text-font">
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Fujimori, S., Akaoka, I., Sakamoto, K., Yamanaka, H., Nishioka, K., Kamatani, N.
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<strong>Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.</strong>
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Hum. Genet. 71: 171-176, 1985.
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[PubMed: 3876264]
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[Full Text: https://doi.org/10.1007/BF00283377]
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</p>
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<li>
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<p class="mim-text-font">
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Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G. M. M., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Imaizumi, K., Kuroki, Y., Okabe, T., Orii, T.
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<strong>Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.</strong>
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Hum. Mutat. 7: 123-134, 1996.
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[PubMed: 8829629]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D]
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<p class="mim-text-font">
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Gathof, B. S., Sahota, A., Gresser, U., Chen, J., Stambrook, P. J., Tischfield, J. A., Zollner, N.
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<strong>Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.</strong>
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Klin. Wochenschr. 69: 1152-1155, 1991.
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[PubMed: 2135300]
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[Full Text: https://doi.org/10.1007/BF01815434]
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</p>
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<p class="mim-text-font">
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Hakoda, M., Nishioka, K., Kamatani, N.
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<strong>Homozygous deficiency at autosomal locus APRT in human somatic cells in vivo induced by two different mechanisms.</strong>
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Cancer Res. 50: 1738-1741, 1990.
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[PubMed: 2306728]
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<p class="mim-text-font">
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Hakoda, M., Yamanaka, H., Kamatani, N., Kamatani, N.
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<strong>Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.</strong>
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Am. J. Hum. Genet. 48: 552-562, 1991.
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[PubMed: 1998341]
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<li>
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<p class="mim-text-font">
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Henderson, J. F., Kelley, W. N., Rosenbloom, F. M., Seegmiller, J. E.
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<strong>Inheritance of purine phosphoribosyltransferases in man.</strong>
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Am. J. Hum. Genet. 21: 61-70, 1969.
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[PubMed: 5763607]
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</p>
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<li>
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<p class="mim-text-font">
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Hidaka, Y., Palella, T. D., O'Toole, T. E., Tarle, S. A., Kelley, W. N.
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<strong>Human adenine phosphoribosyltransferase: identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.</strong>
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J. Clin. Invest. 80: 1409-1415, 1987.
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|
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|
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[PubMed: 3680503]
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[Full Text: https://doi.org/10.1172/JCI113219]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Hidaka, Y., Tarle, S. A., Fujimori, S., Kamatani, N., Kelley, W. N., Palella, T. D.
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<strong>Human adenine phosphoribosyltransferase deficiency: demonstration of a single mutant allele common to the Japanese.</strong>
|
|
J. Clin. Invest. 81: 945-950, 1988.
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[PubMed: 3343350]
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[Full Text: https://doi.org/10.1172/JCI113408]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hidaka, Y., Tarle, S. A., O'Toole, T. E., Kelley, W. N., Palella, T. D.
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<strong>Nucleotide sequence of the human APRT gene.</strong>
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Nucleic Acids Res. 15: 9086, 1987.
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[PubMed: 3684585]
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[Full Text: https://doi.org/10.1093/nar/15.21.9086]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Johnson, L. A., Gordon, R. B., Emmerson, B. T.
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|
<strong>Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population.</strong>
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|
Biochem. Genet. 15: 265-272, 1977.
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|
[PubMed: 869896]
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[Full Text: https://doi.org/10.1007/BF00484458]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kamatani, N., Hakoda, M., Otsuka, S., Yoshikawa, H., Kashiwazaki, S.
|
|
<strong>Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.</strong>
|
|
J. Clin. Invest. 90: 130-135, 1992.
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|
|
[PubMed: 1353080]
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[Full Text: https://doi.org/10.1172/JCI115825]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kamatani, N., Kuroshima, S., Hakoda, M., Palella, T. D., Hidaka, Y.
|
|
<strong>Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.</strong>
|
|
Hum. Genet. 85: 600-604, 1990.
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|
|
[PubMed: 2227951]
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|
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[Full Text: https://doi.org/10.1007/BF00193582]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kamatani, N., Kuroshima, S., Terai, C., Hidaka, Y., Palella, T. D., Nishioka, K.
|
|
<strong>Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.</strong>
|
|
Am. J. Hum. Genet. 45: 325-331, 1989.
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|
|
[PubMed: 2502918]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kamatani, N., Kuroshima, S., Terai, C., Kawai, K., Mikanagi, K., Nishioka, K.
|
|
<strong>Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants): application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.</strong>
|
|
Hum. Genet. 76: 148-152, 1987.
|
|
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|
|
[PubMed: 3610146]
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[Full Text: https://doi.org/10.1007/BF00284912]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kamatani, N., Terai, C., Kim, S. Y., Chen, C.-L., Yamanaka, H., Hakoda, M., Totokawa, S., Kashiwazaki, S.
|
|
<strong>The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.</strong>
|
|
Hum. Genet. 98: 596-600, 1996.
|
|
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|
|
[PubMed: 8882882]
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[Full Text: https://doi.org/10.1007/s004390050266]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kamatani, N., Terai, C., Kuroshima, S., Nishioka, K., Mikanagi, K.
|
|
<strong>Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.</strong>
|
|
Hum. Genet. 75: 163-168, 1987.
|
|
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|
|
[PubMed: 3817810]
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[Full Text: https://doi.org/10.1007/BF00591080]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kelley, W. N., Levy, R. I., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E.
|
|
<strong>Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.</strong>
|
|
J. Clin. Invest. 47: 2281-2289, 1968.
|
|
|
|
|
|
[PubMed: 5676523]
|
|
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|
|
|
[Full Text: https://doi.org/10.1172/JCI105913]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Lavinha, J., Morrison, N., Glasgow, L., Ferguson-Smith, M. A.
|
|
<strong>Further evidence for the regional localization of human APRT and DIA4 on chromosome 16. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 517 only, 1984.
|
|
|
|
</p>
|
|
</li>
|
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Cassandra L. Kniffin - updated : 9/19/2012<br>Victor A. McKusick - updated : 1/6/2000<br>Victor A. McKusick - updated : 4/25/1998<br>Victor A. McKusick - updated : 4/1/1998<br>Victor A. McKusick - updated : 10/10/1997
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