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Entry
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- *600473 - PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600473</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600473">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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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 class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000185129;t=ENST00000331327" 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=5813" 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=600473" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000185129;t=ENST00000331327" 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_005859" 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_005859" 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=600473" 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=02721&isoform_id=02721_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/PURA" 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/190750,1346918,5032007,54695646,62089471,84569943,84569968,119582480" 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/Q00577" 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=5813" 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=ENSG00000185129;t=ENST00000331327" 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=PURA" 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=PURA" 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+5813" 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/PURA" 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:5813" 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/5813" 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=chr5&hgg_gene=ENST00000331327.5&hgg_start=140114109&hgg_end=140125619&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9701" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9701" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/pura" 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=600473[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=600473[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PURA/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000185129" 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=PURA" 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=PURA" 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=PURA&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/PA34045" 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:9701" 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/FBgn0022361.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:103079" 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/PURA#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:103079" 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/5813/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=5813" 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=WBGene00004046;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-040624-8" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=PURA&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600473
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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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PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PUR-ALPHA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PURA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PURA</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/5/530?start=-3&limit=10&highlight=530">5q31.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:140114109-140125619&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'})">5:140,114,109-140,125,619</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/5/530?start=-3&limit=10&highlight=530">
|
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5q31.3
|
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/616158"> 616158 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<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/600473" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600473" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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<p>The PURA gene encodes a highly conserved protein with regulatory roles in DNA replication, gene transcription, RNA transport, and mRNA translation (summary by <a href="#6" class="mim-tip-reference" title="Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., the DDD study, Magee, A. C., Turnpenny, P. D., Baralle, D. <strong>Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.</strong> J. Med. Genet. 51: 806-813, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25342064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25342064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25342064[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25342064">Hunt et al., 2014</a>). PURA is essential for normal brain development, synapse formation, and proliferation of neurons, oligodendrocytes, and astrocytes in the central nervous system (summary by <a href="#14" class="mim-tip-reference" title="Tanaka, A. J., Bai, R., Cho, M. T., Anyane-Yeboa, K., Ahimaz, P., Wilson, A. L., Kendall, F., Hay, B., Moss, T., Nardini, M., Bauer, M., Retterer, K., Juusola, J., Chung, W. K. <strong>De novo mutations in PURA are associated with hypotonia and developmental delay.</strong> Cold Spring Harbor Molec. Case Stud. 1: a000356, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27148565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27148565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27148565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/mcs.a000356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27148565">Tanaka et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27148565+25342064" 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="#1" class="mim-tip-reference" title="Bergemann, A. D., Johnson, E. M. <strong>The HeLa Pur factor binds single-stranded DNA at a specific element conserved in gene flanking regions and origins of DNA replication.</strong> Molec. Cell. Biol. 12: 1257-1265, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1545807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1545807</a>] [<a href="https://doi.org/10.1128/mcb.12.3.1257-1265.1992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1545807">Bergemann and Johnson (1992)</a> characterized an approximately 28-kD protein from HeLa cell nuclear extracts that bound specifically to a purine-rich repeat element located at a site of DNA binding upstream of the human c-myc gene, and at origins of replication and transcription initiation sites in a variety of eukaryotes. <a href="#2" class="mim-tip-reference" title="Bergemann, A. D., Ma, Z.-W., Johnson, E. M. <strong>Sequence of cDNA comprising the human pur gene and sequence-specific single-stranded-DNA-binding properties of the encoded protein.</strong> Molec. Cell. Biol. 12: 5673-5682, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1448097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1448097</a>] [<a href="https://doi.org/10.1128/mcb.12.12.5673-5682.1992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1448097">Bergemann et al. (1992)</a> cloned and sequenced the cDNA encoding this protein, designated PURA, from a human fetal liver cDNA library. The deduced 322-amino acid protein contains an N-terminal glycine-rich region, 3 repeats of a 23-amino acid class I motif, 2 repeats of a 26-amino acid class II motif, an amphipathic helix, and a C-terminal glutamine-glutamate-rich domain. Northern blot analysis of human fetal liver, HeLa cells, lung tumor cells, and hepatoma cells showed expression of 4 transcripts, from 2.0 to 5.0 kb, that are either multiple PURA transcripts or homologous mRNAs. RACE-PCR suggested the presence of 3 PURA transcripts of 1.6 to 2.1 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1545807+1448097" 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="Kelm, R. J., Jr., Elder, P. K., Strauch, A. R., Getz, M. J. <strong>Sequence of cDNAs encoding components of vascular actin single-stranded DNA-binding factor 2 establish identity to Pur-alpha and Pur-beta.</strong> J. Biol. Chem. 272: 26727-26733, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9334258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9334258</a>] [<a href="https://doi.org/10.1074/jbc.272.42.26727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9334258">Kelm et al. (1997)</a> cloned mouse Pura (p46) and Purb (p44) and identified them as the 2 components of the previously designated vascular actin single-stranded DNA-binding factor-2, which specifically bound to purine-rich regions within an enhancer and an exon of vascular actin (<a href="#9" class="mim-tip-reference" title="Kelm, R. J., Jr., Sun, S., Strauch, A. R., Getz, M. J. <strong>Repression of transcriptional enhancer factor-1 and activator protein-1-dependent enhancer activity by vascular actin single-stranded DNA binding factor 2.</strong> J. Biol. Chem. 271: 24278-24285, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798674</a>] [<a href="https://doi.org/10.1074/jbc.271.39.24278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798674">Kelm et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9334258+8798674" 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="Bergemann, A. D., Ma, Z.-W., Johnson, E. M. <strong>Sequence of cDNA comprising the human pur gene and sequence-specific single-stranded-DNA-binding properties of the encoded protein.</strong> Molec. Cell. Biol. 12: 5673-5682, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1448097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1448097</a>] [<a href="https://doi.org/10.1128/mcb.12.12.5673-5682.1992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1448097">Bergemann et al. (1992)</a> used gel shift assays to show that PURA binds preferentially to single-stranded DNA containing the purine-rich element. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1448097" 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>Pur-alpha is a single-stranded DNA-binding protein with specific affinity for a purine-rich element of the configuration (GGN)n present in several initiation zones of eukaryotic DNA replication. It interacts with large T-antigen and cellular protein YB-1 (<a href="/entry/154030">154030</a>) to activate JC viral DNA transcription in human cells (<a href="#3" class="mim-tip-reference" title="Chen, N. N., Chang, C.-F., Gallia, G. L., Kerr, D. A., Johnson, E. M., Krachmarov, C. P., Barr, S. M., Frisque, R. J., Bollag, B., Khalili, K. <strong>Cooperative action of cellular proteins YB-1 and Pur-alpha with the tumor antigen of the human JC polyomavirus determines their interaction with the viral lytic control element.</strong> Proc. Nat. Acad. Sci. 92: 1087-1091, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7862639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7862639</a>] [<a href="https://doi.org/10.1073/pnas.92.4.1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7862639">Chen et al., 1995</a>). The functional activities of Pur-alpha, together with its evolutionary conservation, suggested that it may represent an important link between DNA replication and differential gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7862639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Gallia, G. L., Johnson, E. M., Khalili, K. <strong>Pur-alpha: a multifunctional single-stranded DNA- and RNA-binding protein.</strong> Nucleic Acids Res. 28: 3197-3205, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10954586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10954586</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10954586[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/28.17.3197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10954586">Gallia et al. (2000)</a> reviewed the structure and function of PURA. The central repeat region of PURA mediates binding to its single-stranded DNA target sequence as well as to regulatory proteins, both of which are modulated by RNA. In its C-terminal half, PURA contains an amphipathic alpha-helix with limited homology to the large tumor antigen of several polyomaviruses with a PSYC, or 'psycho,' motif. It also contains an N-terminal glycine-rich region. PURA is implicated in the transcriptional control of a number of cellular genes, including MBP (<a href="/entry/159430">159430</a>), FE65 (APBB1; <a href="/entry/602709">602709</a>), and neuronal ACHR (e.g., CHRNB2; <a href="/entry/118507">118507</a>), as well as viral promoters for JCV and HIV-1, which replicate in the central nervous system. PURA is also involved in the control of cell growth and interacts with the hypophosphorylated form of RB1 (<a href="/entry/614041">614041</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10954586" 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>Fragile X-associated tremor/ataxia syndrome (FXTAS; <a href="/entry/300623">300623</a>) is a neurodegenerative disorder caused by FMR1 premutation alleles containing 55 to 200 repeats of the trinucleotide CGG (<a href="/entry/309550#0004">309550.0004</a>). Using gel-shift assays with mouse and fly brain lysates, followed by protein purification and mass spectroscopy, <a href="#7" class="mim-tip-reference" title="Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T. C., Liu, H., Feng, Y., Warren, S. T. <strong>Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.</strong> Neuron 55: 556-564, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17698009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17698009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17698009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.neuron.2007.07.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17698009">Jin et al. (2007)</a> showed that Pur-alpha bound (CGG)105. Pur-alpha bound CGG repeats in a sequence-specific manner, and overexpression of Pur-alpha in a Drosophila model of FXTAS suppressed CGG repeat-mediated neurodegeneration in a dose-dependent manner. Furthermore, immunohistochemical analysis showed that Pur-alpha was ubiquitously expressed in wildtype fly eyes, but it was sequestered in inclusions in fly eyes expressing (CGG)105. Human PURA was present in ubiquitin-positive inclusions in postmortem FXTAS brain tissues. <a href="#7" class="mim-tip-reference" title="Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T. C., Liu, H., Feng, Y., Warren, S. T. <strong>Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.</strong> Neuron 55: 556-564, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17698009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17698009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17698009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.neuron.2007.07.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17698009">Jin et al. (2007)</a> hypothesized that PURA is sequestered from its normal function by binding premutation CGG repeats, leading to pathologic changes in FXTAS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17698009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a 16-kb genomic probe together with hybridization of a cDNA probe to blots of DNA from human/hamster cell lines, <a href="#12" class="mim-tip-reference" title="Ma, Z.-W., Pejovic, T., Najfeld, V., Ward, D. C., Johnson, E. M. <strong>Localization of PURA, the gene encoding the sequence-specific single-stranded-DNA-binding protein Pur-alpha, to chromosome band 5q31.</strong> Cytogenet. Cell Genet. 71: 64-67, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7606931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7606931</a>] [<a href="https://doi.org/10.1159/000134065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7606931">Ma et al. (1995)</a> mapped the PURA gene to 5q31. This region is frequently deleted in myelogenous leukemias in hematologic malignancies and other cancers. Sequences with homology to the PURA gene were also present at 6q14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7606931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others. <strong>Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.</strong> Am. J. Hum. Genet. 95: 579-583, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25439098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25439098</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25439098">Lalani et al. (2014)</a> identified de novo heterozygous mutations in the PURA gene (see, e.g., <a href="#0001">600473.0001</a>-<a href="#0005">600473.0005</a>) in 11 (0.52%) of 2,117 pediatric patients with various neurodevelopmental disorders who underwent whole-exome sequencing. The patients with PURA mutations had a similar neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>). There were 4 truncating mutations, 5 missense mutations, and 2 in-frame deletions. Functional studies of the variants were not performed, but the presence of truncating mutations suggested at least a partial loss of protein function as responsible for the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25439098" 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 4 unrelated girls with NEDRIHF, <a href="#6" class="mim-tip-reference" title="Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., the DDD study, Magee, A. C., Turnpenny, P. D., Baralle, D. <strong>Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.</strong> J. Med. Genet. 51: 806-813, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25342064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25342064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25342064[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25342064">Hunt et al. (2014)</a> identified 4 different de novo heterozygous mutations in the PURA gene (see, e.g., <a href="#0006">600473.0006</a>-<a href="#0008">600473.0008</a>). Two mutations were truncating frameshifts, 1 was missense, and 1 was an in-frame deletion. The mutations were found by whole-exome sequencing; functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25342064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The <a href="#4" class="mim-tip-reference" title="Deciphering Developmental Disorders Study. <strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong> Nature 519: 223-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25533962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25533962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25533962[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature14135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25533962">Deciphering Developmental Disorders Study (2015)</a> reported 3 patients with a neurodevelopmental disorder who had de novo heterozygous mutations in the PURA gene. In 2 of these patients, the mutation was a frameshift; in the third it was missense. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25533962" 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 6 unrelated children with NEDRIHF, <a href="#14" class="mim-tip-reference" title="Tanaka, A. J., Bai, R., Cho, M. T., Anyane-Yeboa, K., Ahimaz, P., Wilson, A. L., Kendall, F., Hay, B., Moss, T., Nardini, M., Bauer, M., Retterer, K., Juusola, J., Chung, W. K. <strong>De novo mutations in PURA are associated with hypotonia and developmental delay.</strong> Cold Spring Harbor Molec. Case Stud. 1: a000356, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27148565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27148565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27148565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/mcs.a000356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27148565">Tanaka et al. (2015)</a> identified 6 different de novo heterozygous mutations in the PURA gene (see, e.g., <a href="#0008">600473.0008</a>-<a href="#0010">600473.0010</a>). The mutations, which were found by whole-exome sequencing, comprised missense, frameshift, and small intragenic deletions. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27148565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., van Dijk, K., and 41 others. <strong>PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.</strong> J. Med. Genet. 55: 104-113, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29097605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29097605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29097605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2017-104946" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29097605">Reijnders et al. (2018)</a> reported 32 unrelated patients with NEDRIHF associated with de novo heterozygous mutations in the PURA gene. Most patients were identified through whole-exome sequencing in a research or clinical setting. There were missense, small deletions, and frameshift mutations that occurred throughout the gene. All missense variants occurred in a PUR repeat domain. Although several mutations were recurrent (see, e.g., K97E, <a href="#0004">600473.0004</a>; F271del, <a href="#0001">600473.0001</a>; and F233del; <a href="#0008">600473.0008</a>), patients with the same mutations showed remarkable phenotypic variability. Functional studies of the variants and studies of patient cells were not performed. However, using molecular modeling, the authors classified the mutations according to their predicted effects on domain folding and protein function. Overall, there were no genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29097605" 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="#10" class="mim-tip-reference" title="Khalili, K., Del Valle, L., Muralidharan, V., Gault, W. J., Darbinian, N., Otte, J., Meier, E., Johnson, E. M., Daniel, D. C., Kinoshita, Y., Amini, S., Gordon, J. <strong>Pur-alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.</strong> Molec. Cell. Biol. 23: 6857-6875, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12972605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12972605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12972605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.19.6857-6875.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12972605">Khalili et al. (2003)</a> found that Pura -/- mice appeared normal at birth, but at 2 weeks of age, they developed neurologic problems characterized by severe tremor and spontaneous seizures, and they died by 4 weeks. Regions of the hippocampus and cerebellum of Pura -/- mice showed severely lower numbers of neurons compared with wildtype littermates, and lamination of these regions was aberrant at time of death. Immunohistochemical analysis of Mcm7 (<a href="/entry/600592">600592</a>), a marker for DNA replication, revealed lack of proliferation of precursor cells in these regions in Pura -/- mice. Proliferation was also low or absent in several other tissues of Pura -/- mice, including those of myeloid lineage, whereas those of Pura +/- mice were intermediate. Evaluation of brain sections indicated reduced myelination and pathologic development of oligodendrocytes and astrocytes. At postnatal day 5, a critical time for cerebellar development, Pura and Cdk5 (<a href="/entry/123831">123831</a>) were both at peak levels in bodies and dendrites of Purkinje cells of wildtype mice, but both proteins were absent in dendrites of Pura -/- mice. Immunohistochemical analysis revealed dramatic reduction in both phosphorylated and nonphosphorylated neurofilaments in dendrites of the Purkinje cell layer and of synapse formation in the hippocampus. <a href="#10" class="mim-tip-reference" title="Khalili, K., Del Valle, L., Muralidharan, V., Gault, W. J., Darbinian, N., Otte, J., Meier, E., Johnson, E. M., Daniel, D. C., Kinoshita, Y., Amini, S., Gordon, J. <strong>Pur-alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.</strong> Molec. Cell. Biol. 23: 6857-6875, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12972605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12972605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12972605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.19.6857-6875.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12972605">Khalili et al. (2003)</a> concluded that PURA has a role in developmentally timed DNA replication in specific cell types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12972605" 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="#11" class="mim-tip-reference" title="Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others. <strong>Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.</strong> Am. J. Hum. Genet. 95: 579-583, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25439098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25439098</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25439098">Lalani et al. (2014)</a> found that mutant Caenorhabditis elegans animals homozygous for a null allele of the PURA ortholog plp-1 were sterile and had defective locomotion compared to wildtype, suggesting a role for PURA in both germline and somatic neuronal tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25439098" 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">rs587782991 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587782991;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=rs587782991" 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=rs587782991" 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 6-month-old boy with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#11" class="mim-tip-reference" title="Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others. <strong>Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.</strong> Am. J. Hum. Genet. 95: 579-583, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25439098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25439098</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25439098">Lalani et al. (2014)</a> identified a de novo heterozygous 3-bp in-frame deletion (c.812_814delTCT) in the PURA gene, resulting in the deletion of the conserved residue phe271 (Phe271del). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25439098" 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">rs587782992 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587782992;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=rs587782992" 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=rs587782992" 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 7-month-old boy with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#11" class="mim-tip-reference" title="Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others. <strong>Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.</strong> Am. J. Hum. Genet. 95: 579-583, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25439098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25439098</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25439098">Lalani et al. (2014)</a> identified a de novo heterozygous 2-bp deletion (c.307_308delTC) in the PURA gene, resulting in a frameshift and premature termination (Ser103HisfsTer97). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed, but the findings were consistent with at least a partial loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25439098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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">rs587782993 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587782993;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=rs587782993" 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=rs587782993" 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=RCV000144523 OR RCV000149571" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144523, RCV000149571" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144523...</a>
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<p>In a 10-month-old boy with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#11" class="mim-tip-reference" title="Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others. <strong>Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.</strong> Am. J. Hum. Genet. 95: 579-583, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25439098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25439098</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25439098">Lalani et al. (2014)</a> identified a de novo heterozygous c.556C-T transition in the PURA gene, resulting in a gln186-to-ter (Q186X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed, but the findings were consistent with at least a partial loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25439098" 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 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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">rs587782994 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587782994;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=rs587782994" 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=rs587782994" 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 21-month-old girl with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#11" class="mim-tip-reference" title="Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others. <strong>Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.</strong> Am. J. Hum. Genet. 95: 579-583, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25439098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25439098</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25439098">Lalani et al. (2014)</a> identified a de novo heterozygous c.289A-G transition in the PURA gene, resulting in a lys97-to-glu (K97E) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25439098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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">rs587782995 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587782995;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=rs587782995" 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=rs587782995" 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=RCV000144525 OR RCV000149573" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144525, RCV000149573" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144525...</a>
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<p>In a 23-month-old girl with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#11" class="mim-tip-reference" title="Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others. <strong>Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.</strong> Am. J. Hum. Genet. 95: 579-583, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25439098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25439098</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25439098">Lalani et al. (2014)</a> identified a de novo heterozygous c.299T-C transition in the PURA gene, resulting in a leu100-to-pro (L100P) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25439098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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">rs786204833 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204833;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=rs786204833" 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=rs786204833" 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=RCV000169737" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169737" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169737</a>
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<p>In a 4-year-old girl (patient 1) with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#6" class="mim-tip-reference" title="Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., the DDD study, Magee, A. C., Turnpenny, P. D., Baralle, D. <strong>Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.</strong> J. Med. Genet. 51: 806-813, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25342064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25342064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25342064[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25342064">Hunt et al. (2014)</a> identified a de novo heterozygous 2-bp deletion (c.726_727delGT, NM_005859.4) in the PURA gene, resulting in a frameshift and premature termination (Phe243TyrfsTer50) in the Pur repeat III domain. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant were not performed. <a href="#6" class="mim-tip-reference" title="Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., the DDD study, Magee, A. C., Turnpenny, P. D., Baralle, D. <strong>Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.</strong> J. Med. Genet. 51: 806-813, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25342064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25342064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25342064[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25342064">Hunt et al. (2014)</a> noted that since the PURA gene contains only 1 exon, the mutation would not lead to nonsense-mediated mRNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25342064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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">rs786204834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204834;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=rs786204834" 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=rs786204834" 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=RCV000169738" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169738" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169738</a>
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<p>In a 12-year-old girl (patient 3) with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#6" class="mim-tip-reference" title="Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., the DDD study, Magee, A. C., Turnpenny, P. D., Baralle, D. <strong>Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.</strong> J. Med. Genet. 51: 806-813, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25342064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25342064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25342064[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25342064">Hunt et al. (2014)</a> identified a de novo heterozygous c.616A-T transversion (c.616A-T, NM_005859.4) in the PURA gene, resulting in an ile206-to-phe (I206F) substitution at a highly conserved residue in the Pur repeat II domain. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25342064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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">rs786204835 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204835;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=rs786204835" 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=rs786204835" 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=RCV000169739 OR RCV000172939 OR RCV001266572 OR RCV003335173 OR RCV003937527" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169739, RCV000172939, RCV001266572, RCV003335173, RCV003937527" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169739...</a>
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<p>In a 6-year-old girl (patient 4) with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#6" class="mim-tip-reference" title="Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., the DDD study, Magee, A. C., Turnpenny, P. D., Baralle, D. <strong>Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.</strong> J. Med. Genet. 51: 806-813, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25342064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25342064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25342064[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25342064">Hunt et al. (2014)</a> identified a de novo heterozygous 3-bp deletion (c.697_699delTTC, NM_005859.4), resulting in the deletion of a highly conserved residue (Phe233del) in the Pur repeat III domain. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25342064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Tanaka, A. J., Bai, R., Cho, M. T., Anyane-Yeboa, K., Ahimaz, P., Wilson, A. L., Kendall, F., Hay, B., Moss, T., Nardini, M., Bauer, M., Retterer, K., Juusola, J., Chung, W. K. <strong>De novo mutations in PURA are associated with hypotonia and developmental delay.</strong> Cold Spring Harbor Molec. Case Stud. 1: a000356, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27148565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27148565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27148565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/mcs.a000356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27148565">Tanaka et al. (2015)</a> identified a de novo heterozygous c.697_699delTTC mutation in a 6-month-old girl with NEDRIHF. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, Exome Sequencing Project, or ExAC databases. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27148565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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">rs793888527 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs793888527;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=rs793888527" 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=rs793888527" 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=RCV000201221 OR RCV000622637" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201221, RCV000622637" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201221...</a>
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<p>In an 8-year-old boy with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#14" class="mim-tip-reference" title="Tanaka, A. J., Bai, R., Cho, M. T., Anyane-Yeboa, K., Ahimaz, P., Wilson, A. L., Kendall, F., Hay, B., Moss, T., Nardini, M., Bauer, M., Retterer, K., Juusola, J., Chung, W. K. <strong>De novo mutations in PURA are associated with hypotonia and developmental delay.</strong> Cold Spring Harbor Molec. Case Stud. 1: a000356, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27148565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27148565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27148565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/mcs.a000356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27148565">Tanaka et al. (2015)</a> identified a de novo heterozygous c.563T-C transition in the PURA gene, resulting in an ile188-to-thr (I188T) substitution at a highly conserved residue in the PUR repeat II domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, Exome Sequencing Project, or ExAC databases. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27148565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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">rs793888533 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs793888533;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=rs793888533" 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=rs793888533" 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=RCV000172935 OR RCV000201223" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000172935, RCV000201223" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000172935...</a>
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<p>In a 5-year-old girl with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; <a href="/entry/616158">616158</a>), <a href="#14" class="mim-tip-reference" title="Tanaka, A. J., Bai, R., Cho, M. T., Anyane-Yeboa, K., Ahimaz, P., Wilson, A. L., Kendall, F., Hay, B., Moss, T., Nardini, M., Bauer, M., Retterer, K., Juusola, J., Chung, W. K. <strong>De novo mutations in PURA are associated with hypotonia and developmental delay.</strong> Cold Spring Harbor Molec. Case Stud. 1: a000356, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27148565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27148565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27148565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/mcs.a000356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27148565">Tanaka et al. (2015)</a> identified a de novo heterozygous 9-bp deletion in the PURA gene (c.302_310del), resulting in an in-frame deletion of 3 conserved residues (Thr101_Ser103del) in the PUR repeat I domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, Exome Sequencing Project, or ExAC databases. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27148565" 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>The HeLa Pur factor binds single-stranded DNA at a specific element conserved in gene flanking regions and origins of DNA replication.</strong>
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Molec. Cell. Biol. 12: 1257-1265, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1545807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1545807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1545807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/mcb.12.3.1257-1265.1992" target="_blank">Full Text</a>]
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<strong>Sequence of cDNA comprising the human pur gene and sequence-specific single-stranded-DNA-binding properties of the encoded protein.</strong>
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Molec. Cell. Biol. 12: 5673-5682, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1448097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1448097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1448097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/mcb.12.12.5673-5682.1992" target="_blank">Full Text</a>]
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Chen, N. N., Chang, C.-F., Gallia, G. L., Kerr, D. A., Johnson, E. M., Krachmarov, C. P., Barr, S. M., Frisque, R. J., Bollag, B., Khalili, K.
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<strong>Cooperative action of cellular proteins YB-1 and Pur-alpha with the tumor antigen of the human JC polyomavirus determines their interaction with the viral lytic control element.</strong>
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Proc. Nat. Acad. Sci. 92: 1087-1091, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7862639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7862639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7862639" 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.92.4.1087" target="_blank">Full Text</a>]
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<a id="{Deciphering Developmental Disorders Study}2015" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1038/nature14135" target="_blank">Full Text</a>]
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<strong>Pur-alpha: a multifunctional single-stranded DNA- and RNA-binding protein.</strong>
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[<a href="https://doi.org/10.1093/nar/28.17.3197" target="_blank">Full Text</a>]
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<a id="Hunt2014" class="mim-anchor"></a>
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Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., the DDD study, Magee, A. C., Turnpenny, P. D., Baralle, D.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25342064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25342064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25342064[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25342064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2014-102798" target="_blank">Full Text</a>]
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<a id="Jin2007" class="mim-anchor"></a>
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Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T. C., Liu, H., Feng, Y., Warren, S. T.
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<strong>Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.</strong>
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Neuron 55: 556-564, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17698009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17698009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17698009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17698009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.neuron.2007.07.020" target="_blank">Full Text</a>]
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Kelm, R. J., Jr., Elder, P. K., Strauch, A. R., Getz, M. J.
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<strong>Sequence of cDNAs encoding components of vascular actin single-stranded DNA-binding factor 2 establish identity to Pur-alpha and Pur-beta.</strong>
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J. Biol. Chem. 272: 26727-26733, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9334258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9334258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9334258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.272.42.26727" target="_blank">Full Text</a>]
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<a id="Kelm1996" class="mim-anchor"></a>
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Kelm, R. J., Jr., Sun, S., Strauch, A. R., Getz, M. J.
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<strong>Repression of transcriptional enhancer factor-1 and activator protein-1-dependent enhancer activity by vascular actin single-stranded DNA binding factor 2.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.271.39.24278" target="_blank">Full Text</a>]
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<a id="Khalili2003" class="mim-anchor"></a>
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Khalili, K., Del Valle, L., Muralidharan, V., Gault, W. J., Darbinian, N., Otte, J., Meier, E., Johnson, E. M., Daniel, D. C., Kinoshita, Y., Amini, S., Gordon, J.
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<strong>Pur-alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.</strong>
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Molec. Cell. Biol. 23: 6857-6875, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12972605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12972605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12972605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12972605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.23.19.6857-6875.2003" target="_blank">Full Text</a>]
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<a id="Lalani2014" class="mim-anchor"></a>
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Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others.
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<strong>Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.</strong>
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Am. J. Hum. Genet. 95: 579-583, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25439098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25439098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25439098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2014.09.014" target="_blank">Full Text</a>]
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<a id="Ma1995" class="mim-anchor"></a>
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Ma, Z.-W., Pejovic, T., Najfeld, V., Ward, D. C., Johnson, E. M.
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<strong>Localization of PURA, the gene encoding the sequence-specific single-stranded-DNA-binding protein Pur-alpha, to chromosome band 5q31.</strong>
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Cytogenet. Cell Genet. 71: 64-67, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7606931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7606931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7606931" 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/10.1159/000134065" target="_blank">Full Text</a>]
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<a id="Reijnders2018" class="mim-anchor"></a>
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Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., van Dijk, K., and 41 others.
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<strong>PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.</strong>
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J. Med. Genet. 55: 104-113, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29097605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29097605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29097605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29097605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2017-104946" target="_blank">Full Text</a>]
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Tanaka, A. J., Bai, R., Cho, M. T., Anyane-Yeboa, K., Ahimaz, P., Wilson, A. L., Kendall, F., Hay, B., Moss, T., Nardini, M., Bauer, M., Retterer, K., Juusola, J., Chung, W. K.
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<strong>De novo mutations in PURA are associated with hypotonia and developmental delay.</strong>
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Cold Spring Harbor Molec. Case Stud. 1: a000356, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27148565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27148565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27148565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27148565" 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/10.1101/mcs.a000356" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 08/16/2021
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Cassandra L. Kniffin - updated : 10/14/2015<br>Ada Hamosh - updated : 5/14/2015<br>Cassandra L. Kniffin - updated : 3/31/2015<br>Cassandra L. Kniffin - updated : 12/30/2014<br>Ada Hamosh - updated : 8/28/2009<br>Patricia A. Hartz - updated : 4/8/2009<br>Laura L. Baxter - updated : 8/27/2004<br>Paul J. Converse - updated : 10/12/2000<br>Victor A. McKusick - updated : 4/3/1996
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Victor A. McKusick : 3/29/1995
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alopez : 08/17/2021<br>ckniffin : 08/16/2021<br>carol : 10/19/2015<br>ckniffin : 10/14/2015<br>alopez : 5/14/2015<br>alopez : 5/14/2015<br>alopez : 4/14/2015<br>alopez : 4/2/2015<br>mcolton : 4/1/2015<br>ckniffin : 3/31/2015<br>carol : 1/5/2015<br>mcolton : 1/2/2015<br>ckniffin : 12/30/2014<br>carol : 6/17/2011<br>mgross : 9/4/2009<br>terry : 8/28/2009<br>mgross : 4/8/2009<br>terry : 4/8/2009<br>carol : 9/1/2004<br>terry : 8/27/2004<br>mcapotos : 10/19/2000<br>mcapotos : 10/16/2000<br>terry : 10/12/2000<br>alopez : 7/29/1998<br>dkim : 7/24/1998<br>mark : 3/5/1998<br>mark : 3/5/1998<br>mark : 3/5/1998<br>jamie : 2/12/1997<br>carol : 3/30/1995<br>carol : 3/29/1995
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PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA
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</span>
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</h3>
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</div>
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<br />
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PUR-ALPHA
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</span>
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</h4>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PURA</em></strong>
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</span>
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</p>
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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: 5q31.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:140,114,109-140,125,619 </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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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5q31.3
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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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Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
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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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616158
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<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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</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 PURA gene encodes a highly conserved protein with regulatory roles in DNA replication, gene transcription, RNA transport, and mRNA translation (summary by Hunt et al., 2014). PURA is essential for normal brain development, synapse formation, and proliferation of neurons, oligodendrocytes, and astrocytes in the central nervous system (summary by Tanaka et al., 2015). </p>
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</span>
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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>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>Bergemann and Johnson (1992) characterized an approximately 28-kD protein from HeLa cell nuclear extracts that bound specifically to a purine-rich repeat element located at a site of DNA binding upstream of the human c-myc gene, and at origins of replication and transcription initiation sites in a variety of eukaryotes. Bergemann et al. (1992) cloned and sequenced the cDNA encoding this protein, designated PURA, from a human fetal liver cDNA library. The deduced 322-amino acid protein contains an N-terminal glycine-rich region, 3 repeats of a 23-amino acid class I motif, 2 repeats of a 26-amino acid class II motif, an amphipathic helix, and a C-terminal glutamine-glutamate-rich domain. Northern blot analysis of human fetal liver, HeLa cells, lung tumor cells, and hepatoma cells showed expression of 4 transcripts, from 2.0 to 5.0 kb, that are either multiple PURA transcripts or homologous mRNAs. RACE-PCR suggested the presence of 3 PURA transcripts of 1.6 to 2.1 kb. </p><p>Kelm et al. (1997) cloned mouse Pura (p46) and Purb (p44) and identified them as the 2 components of the previously designated vascular actin single-stranded DNA-binding factor-2, which specifically bound to purine-rich regions within an enhancer and an exon of vascular actin (Kelm et al., 1996). </p>
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</span>
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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>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bergemann et al. (1992) used gel shift assays to show that PURA binds preferentially to single-stranded DNA containing the purine-rich element. </p><p>Pur-alpha is a single-stranded DNA-binding protein with specific affinity for a purine-rich element of the configuration (GGN)n present in several initiation zones of eukaryotic DNA replication. It interacts with large T-antigen and cellular protein YB-1 (154030) to activate JC viral DNA transcription in human cells (Chen et al., 1995). The functional activities of Pur-alpha, together with its evolutionary conservation, suggested that it may represent an important link between DNA replication and differential gene expression. </p><p>Gallia et al. (2000) reviewed the structure and function of PURA. The central repeat region of PURA mediates binding to its single-stranded DNA target sequence as well as to regulatory proteins, both of which are modulated by RNA. In its C-terminal half, PURA contains an amphipathic alpha-helix with limited homology to the large tumor antigen of several polyomaviruses with a PSYC, or 'psycho,' motif. It also contains an N-terminal glycine-rich region. PURA is implicated in the transcriptional control of a number of cellular genes, including MBP (159430), FE65 (APBB1; 602709), and neuronal ACHR (e.g., CHRNB2; 118507), as well as viral promoters for JCV and HIV-1, which replicate in the central nervous system. PURA is also involved in the control of cell growth and interacts with the hypophosphorylated form of RB1 (614041). </p><p>Fragile X-associated tremor/ataxia syndrome (FXTAS; 300623) is a neurodegenerative disorder caused by FMR1 premutation alleles containing 55 to 200 repeats of the trinucleotide CGG (309550.0004). Using gel-shift assays with mouse and fly brain lysates, followed by protein purification and mass spectroscopy, Jin et al. (2007) showed that Pur-alpha bound (CGG)105. Pur-alpha bound CGG repeats in a sequence-specific manner, and overexpression of Pur-alpha in a Drosophila model of FXTAS suppressed CGG repeat-mediated neurodegeneration in a dose-dependent manner. Furthermore, immunohistochemical analysis showed that Pur-alpha was ubiquitously expressed in wildtype fly eyes, but it was sequestered in inclusions in fly eyes expressing (CGG)105. Human PURA was present in ubiquitin-positive inclusions in postmortem FXTAS brain tissues. Jin et al. (2007) hypothesized that PURA is sequestered from its normal function by binding premutation CGG repeats, leading to pathologic changes in FXTAS. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a 16-kb genomic probe together with hybridization of a cDNA probe to blots of DNA from human/hamster cell lines, Ma et al. (1995) mapped the PURA gene to 5q31. This region is frequently deleted in myelogenous leukemias in hematologic malignancies and other cancers. Sequences with homology to the PURA gene were also present at 6q14. </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>Lalani et al. (2014) identified de novo heterozygous mutations in the PURA gene (see, e.g., 600473.0001-600473.0005) in 11 (0.52%) of 2,117 pediatric patients with various neurodevelopmental disorders who underwent whole-exome sequencing. The patients with PURA mutations had a similar neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158). There were 4 truncating mutations, 5 missense mutations, and 2 in-frame deletions. Functional studies of the variants were not performed, but the presence of truncating mutations suggested at least a partial loss of protein function as responsible for the phenotype. </p><p>In 4 unrelated girls with NEDRIHF, Hunt et al. (2014) identified 4 different de novo heterozygous mutations in the PURA gene (see, e.g., 600473.0006-600473.0008). Two mutations were truncating frameshifts, 1 was missense, and 1 was an in-frame deletion. The mutations were found by whole-exome sequencing; functional studies of the variants were not performed. </p><p>The Deciphering Developmental Disorders Study (2015) reported 3 patients with a neurodevelopmental disorder who had de novo heterozygous mutations in the PURA gene. In 2 of these patients, the mutation was a frameshift; in the third it was missense. </p><p>In 6 unrelated children with NEDRIHF, Tanaka et al. (2015) identified 6 different de novo heterozygous mutations in the PURA gene (see, e.g., 600473.0008-600473.0010). The mutations, which were found by whole-exome sequencing, comprised missense, frameshift, and small intragenic deletions. Functional studies of the variants were not performed. </p><p>Reijnders et al. (2018) reported 32 unrelated patients with NEDRIHF associated with de novo heterozygous mutations in the PURA gene. Most patients were identified through whole-exome sequencing in a research or clinical setting. There were missense, small deletions, and frameshift mutations that occurred throughout the gene. All missense variants occurred in a PUR repeat domain. Although several mutations were recurrent (see, e.g., K97E, 600473.0004; F271del, 600473.0001; and F233del; 600473.0008), patients with the same mutations showed remarkable phenotypic variability. Functional studies of the variants and studies of patient cells were not performed. However, using molecular modeling, the authors classified the mutations according to their predicted effects on domain folding and protein function. Overall, there were no genotype/phenotype correlations. </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>Khalili et al. (2003) found that Pura -/- mice appeared normal at birth, but at 2 weeks of age, they developed neurologic problems characterized by severe tremor and spontaneous seizures, and they died by 4 weeks. Regions of the hippocampus and cerebellum of Pura -/- mice showed severely lower numbers of neurons compared with wildtype littermates, and lamination of these regions was aberrant at time of death. Immunohistochemical analysis of Mcm7 (600592), a marker for DNA replication, revealed lack of proliferation of precursor cells in these regions in Pura -/- mice. Proliferation was also low or absent in several other tissues of Pura -/- mice, including those of myeloid lineage, whereas those of Pura +/- mice were intermediate. Evaluation of brain sections indicated reduced myelination and pathologic development of oligodendrocytes and astrocytes. At postnatal day 5, a critical time for cerebellar development, Pura and Cdk5 (123831) were both at peak levels in bodies and dendrites of Purkinje cells of wildtype mice, but both proteins were absent in dendrites of Pura -/- mice. Immunohistochemical analysis revealed dramatic reduction in both phosphorylated and nonphosphorylated neurofilaments in dendrites of the Purkinje cell layer and of synapse formation in the hippocampus. Khalili et al. (2003) concluded that PURA has a role in developmentally timed DNA replication in specific cell types. </p><p>Lalani et al. (2014) found that mutant Caenorhabditis elegans animals homozygous for a null allele of the PURA ortholog plp-1 were sterile and had defective locomotion compared to wildtype, suggesting a role for PURA in both germline and somatic neuronal tissues. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 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 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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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PURA, 3-BP DEL, 812TCT
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<br />
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SNP: rs587782991,
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ClinVar: RCV000144521, RCV000149569, RCV000480536
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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 6-month-old boy with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Lalani et al. (2014) identified a de novo heterozygous 3-bp in-frame deletion (c.812_814delTCT) in the PURA gene, resulting in the deletion of the conserved residue phe271 (Phe271del). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed. </p>
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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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<h4>
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<span class="mim-font">
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<strong>.0002 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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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PURA, 2-BP DEL, 307TC
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<br />
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SNP: rs587782992,
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ClinVar: RCV000144522, RCV000149570, RCV004730882
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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 7-month-old boy with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Lalani et al. (2014) identified a de novo heterozygous 2-bp deletion (c.307_308delTC) in the PURA gene, resulting in a frameshift and premature termination (Ser103HisfsTer97). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed, but the findings were consistent with at least a partial loss of function. </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 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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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PURA, GLN186TER
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<br />
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SNP: rs587782993,
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ClinVar: RCV000144523, RCV000149571
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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 10-month-old boy with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Lalani et al. (2014) identified a de novo heterozygous c.556C-T transition in the PURA gene, resulting in a gln186-to-ter (Q186X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed, but the findings were consistent with at least a partial loss of function. </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 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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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PURA, LYS97GLU
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<br />
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SNP: rs587782994,
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ClinVar: RCV000144524, RCV000149572
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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 21-month-old girl with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Lalani et al. (2014) identified a de novo heterozygous c.289A-G transition in the PURA gene, resulting in a lys97-to-glu (K97E) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed. </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 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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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PURA, LEU100PRO
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<br />
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SNP: rs587782995,
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ClinVar: RCV000144525, RCV000149573
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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 23-month-old girl with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Lalani et al. (2014) identified a de novo heterozygous c.299T-C transition in the PURA gene, resulting in a leu100-to-pro (L100P) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 134), 1000 Genomes Project, or Exome Variant Server databases or in the exomes of about 6,000 control individuals. Functional studies of the variant were not performed. </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 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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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PURA, 2-BP DEL, 726GT
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<br />
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SNP: rs786204833,
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ClinVar: RCV000169737
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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 4-year-old girl (patient 1) with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Hunt et al. (2014) identified a de novo heterozygous 2-bp deletion (c.726_727delGT, NM_005859.4) in the PURA gene, resulting in a frameshift and premature termination (Phe243TyrfsTer50) in the Pur repeat III domain. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant were not performed. Hunt et al. (2014) noted that since the PURA gene contains only 1 exon, the mutation would not lead to nonsense-mediated mRNA decay. </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>.0007 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</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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PURA, ILE206PHE
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<br />
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SNP: rs786204834,
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ClinVar: RCV000169738
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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 12-year-old girl (patient 3) with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Hunt et al. (2014) identified a de novo heterozygous c.616A-T transversion (c.616A-T, NM_005859.4) in the PURA gene, resulting in an ile206-to-phe (I206F) substitution at a highly conserved residue in the Pur repeat II domain. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>.0008 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PURA, 3-BP DEL, 697TTC
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<br />
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SNP: rs786204835,
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|
|
ClinVar: RCV000169739, RCV000172939, RCV001266572, RCV003335173, RCV003937527
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 6-year-old girl (patient 4) with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Hunt et al. (2014) identified a de novo heterozygous 3-bp deletion (c.697_699delTTC, NM_005859.4), resulting in the deletion of a highly conserved residue (Phe233del) in the Pur repeat III domain. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant were not performed. </p><p>Tanaka et al. (2015) identified a de novo heterozygous c.697_699delTTC mutation in a 6-month-old girl with NEDRIHF. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, Exome Sequencing Project, or ExAC databases. Functional studies of the variant were not performed. </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>.0009 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
PURA, ILE188THR
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<br />
|
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|
|
SNP: rs793888527,
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|
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|
|
|
|
ClinVar: RCV000201221, RCV000622637
|
|
|
|
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old boy with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Tanaka et al. (2015) identified a de novo heterozygous c.563T-C transition in the PURA gene, resulting in an ile188-to-thr (I188T) substitution at a highly conserved residue in the PUR repeat II domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, Exome Sequencing Project, or ExAC databases. Functional studies of the variant were not performed. </p>
|
|
</span>
|
|
</div>
|
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<div>
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|
<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
PURA, 9-BP DEL, NT302
|
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|
|
|
<br />
|
|
|
|
SNP: rs793888533,
|
|
|
|
|
|
|
|
ClinVar: RCV000172935, RCV000201223
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5-year-old girl with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF; 616158), Tanaka et al. (2015) identified a de novo heterozygous 9-bp deletion in the PURA gene (c.302_310del), resulting in an in-frame deletion of 3 conserved residues (Thr101_Ser103del) in the PUR repeat I domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, Exome Sequencing Project, or ExAC databases. Functional studies of the variant were not performed. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
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</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
|
|
<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Bergemann, A. D., Johnson, E. M.
|
|
<strong>The HeLa Pur factor binds single-stranded DNA at a specific element conserved in gene flanking regions and origins of DNA replication.</strong>
|
|
Molec. Cell. Biol. 12: 1257-1265, 1992.
|
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|
|
[PubMed: 1545807]
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[Full Text: https://doi.org/10.1128/mcb.12.3.1257-1265.1992]
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</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bergemann, A. D., Ma, Z.-W., Johnson, E. M.
|
|
<strong>Sequence of cDNA comprising the human pur gene and sequence-specific single-stranded-DNA-binding properties of the encoded protein.</strong>
|
|
Molec. Cell. Biol. 12: 5673-5682, 1992.
|
|
|
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|
|
[PubMed: 1448097]
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[Full Text: https://doi.org/10.1128/mcb.12.12.5673-5682.1992]
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</p>
|
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Chen, N. N., Chang, C.-F., Gallia, G. L., Kerr, D. A., Johnson, E. M., Krachmarov, C. P., Barr, S. M., Frisque, R. J., Bollag, B., Khalili, K.
|
|
<strong>Cooperative action of cellular proteins YB-1 and Pur-alpha with the tumor antigen of the human JC polyomavirus determines their interaction with the viral lytic control element.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 1087-1091, 1995.
|
|
|
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|
|
[PubMed: 7862639]
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|
|
[Full Text: https://doi.org/10.1073/pnas.92.4.1087]
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</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Deciphering Developmental Disorders Study.
|
|
<strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong>
|
|
Nature 519: 223-228, 2015.
|
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|
|
|
|
[PubMed: 25533962]
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|
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|
|
[Full Text: https://doi.org/10.1038/nature14135]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gallia, G. L., Johnson, E. M., Khalili, K.
|
|
<strong>Pur-alpha: a multifunctional single-stranded DNA- and RNA-binding protein.</strong>
|
|
Nucleic Acids Res. 28: 3197-3205, 2000.
|
|
|
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|
|
[PubMed: 10954586]
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|
[Full Text: https://doi.org/10.1093/nar/28.17.3197]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., the DDD study, Magee, A. C., Turnpenny, P. D., Baralle, D.
|
|
<strong>Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.</strong>
|
|
J. Med. Genet. 51: 806-813, 2014.
|
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|
|
[PubMed: 25342064]
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[Full Text: https://doi.org/10.1136/jmedgenet-2014-102798]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T. C., Liu, H., Feng, Y., Warren, S. T.
|
|
<strong>Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.</strong>
|
|
Neuron 55: 556-564, 2007.
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|
|
[PubMed: 17698009]
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[Full Text: https://doi.org/10.1016/j.neuron.2007.07.020]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kelm, R. J., Jr., Elder, P. K., Strauch, A. R., Getz, M. J.
|
|
<strong>Sequence of cDNAs encoding components of vascular actin single-stranded DNA-binding factor 2 establish identity to Pur-alpha and Pur-beta.</strong>
|
|
J. Biol. Chem. 272: 26727-26733, 1997.
|
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|
|
[PubMed: 9334258]
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|
[Full Text: https://doi.org/10.1074/jbc.272.42.26727]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kelm, R. J., Jr., Sun, S., Strauch, A. R., Getz, M. J.
|
|
<strong>Repression of transcriptional enhancer factor-1 and activator protein-1-dependent enhancer activity by vascular actin single-stranded DNA binding factor 2.</strong>
|
|
J. Biol. Chem. 271: 24278-24285, 1996.
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[PubMed: 8798674]
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[Full Text: https://doi.org/10.1074/jbc.271.39.24278]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Khalili, K., Del Valle, L., Muralidharan, V., Gault, W. J., Darbinian, N., Otte, J., Meier, E., Johnson, E. M., Daniel, D. C., Kinoshita, Y., Amini, S., Gordon, J.
|
|
<strong>Pur-alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.</strong>
|
|
Molec. Cell. Biol. 23: 6857-6875, 2003.
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|
[PubMed: 12972605]
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[Full Text: https://doi.org/10.1128/MCB.23.19.6857-6875.2003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others.
|
|
<strong>Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.</strong>
|
|
Am. J. Hum. Genet. 95: 579-583, 2014.
|
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|
|
[PubMed: 25439098]
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[Full Text: https://doi.org/10.1016/j.ajhg.2014.09.014]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ma, Z.-W., Pejovic, T., Najfeld, V., Ward, D. C., Johnson, E. M.
|
|
<strong>Localization of PURA, the gene encoding the sequence-specific single-stranded-DNA-binding protein Pur-alpha, to chromosome band 5q31.</strong>
|
|
Cytogenet. Cell Genet. 71: 64-67, 1995.
|
|
|
|
|
|
[PubMed: 7606931]
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|
|
[Full Text: https://doi.org/10.1159/000134065]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., van Dijk, K., and 41 others.
|
|
<strong>PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.</strong>
|
|
J. Med. Genet. 55: 104-113, 2018.
|
|
|
|
|
|
[PubMed: 29097605]
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|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2017-104946]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tanaka, A. J., Bai, R., Cho, M. T., Anyane-Yeboa, K., Ahimaz, P., Wilson, A. L., Kendall, F., Hay, B., Moss, T., Nardini, M., Bauer, M., Retterer, K., Juusola, J., Chung, W. K.
|
|
<strong>De novo mutations in PURA are associated with hypotonia and developmental delay.</strong>
|
|
Cold Spring Harbor Molec. Case Stud. 1: a000356, 2015. Note: Electronic Article.
|
|
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|
|
[PubMed: 27148565]
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|
|
[Full Text: https://doi.org/10.1101/mcs.a000356]
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</p>
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</li>
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</ol>
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<div>
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<br />
|
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</div>
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|
</div>
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</div>
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<div>
|
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 08/16/2021<br>Cassandra L. Kniffin - updated : 10/14/2015<br>Ada Hamosh - updated : 5/14/2015<br>Cassandra L. Kniffin - updated : 3/31/2015<br>Cassandra L. Kniffin - updated : 12/30/2014<br>Ada Hamosh - updated : 8/28/2009<br>Patricia A. Hartz - updated : 4/8/2009<br>Laura L. Baxter - updated : 8/27/2004<br>Paul J. Converse - updated : 10/12/2000<br>Victor A. McKusick - updated : 4/3/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</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 class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 3/29/1995
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