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Entry
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- *180472 - RIBOSOMAL PROTEIN S17; RPS17
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- OMIM
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<p>
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<span class="h4">*180472</span>
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<br />
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<strong>Table of Contents</strong>
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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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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/180472">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</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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<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-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=ENSG00000182774;t=ENST00000647841" 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=6218" 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=180472" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<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=ENSG00000182774;t=ENST00000647841" 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_001021,NR_111943,NR_111944" 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_001021" 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=180472" 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=01600&isoform_id=01600_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/RPS17" 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/133825,337501,337503,4506693,14424805,15149548,18044754,18490383,29612682,38541200,47682775,48734769,119582857,119582858,119582859,189065168,259453271,259466817,300537459,300627788" 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/P08708" 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=6218" 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=ENSG00000182774;t=ENST00000647841" 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=RPS17" 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=RPS17" 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+6218" 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/RPS17" 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:6218" 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/6218" 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=chr15&hgg_gene=ENST00000647841.1&hgg_start=82536750&hgg_end=82540457&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:10397" 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://medlineplus.gov/genetics/gene/rps17" 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=180472[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=180472[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000182774" 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=RPS17" 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=RPS17" 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="http://www.dbagenes.unito.it/home.php?select_db=RPS17" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RPS17&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/PA34797" 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:10397" 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/FBgn0005533.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:1309526" 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/RPS17#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:1309526" 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/6218/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=6218" 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=WBGene00004486;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1852" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6218" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=RPS17&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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180472
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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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RIBOSOMAL PROTEIN S17; RPS17
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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RIBOSOMAL PROTEIN S17a-LIKE 1, INCLUDED; RPS17L1, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
|
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RIBOSOMAL PROTEIN S17a, INCLUDED; RPS17A, INCLUDED<br />
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RIBOSOMAL PROTEIN S17b-LIKE 2, INCLUDED; RPS17L2, INCLUDED<br />
|
|
RIBOSOMAL PROTEIN S17b, INCLUDED; RPS17B, INCLUDED
|
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</span>
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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=RPS17" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RPS17</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/15/453?start=-3&limit=10&highlight=453">15q25.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:82536750-82540457&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'})">15:82,536,750-82,540,457</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">
|
|
<a href="/geneMap/15/453?start=-3&limit=10&highlight=453">
|
|
15q25.2
|
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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">
|
|
Diamond-Blackfan anemia 4
|
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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/612527"> 612527 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<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">
|
|
<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/180472" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/180472" 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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<p><a href="#1" class="mim-tip-reference" title="Chen, I.-T., Dixit, A., Rhoads, D. D., Roufa, D. J. <strong>Homologous ribosomal proteins in bacteria, yeast, and humans.</strong> Proc. Nat. Acad. Sci. 83: 6907-6911, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3529092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3529092</a>] [<a href="https://doi.org/10.1073/pnas.83.18.6907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3529092">Chen et al. (1986)</a> cloned a human ribosomal protein S17 (RPS17) cDNA. The deduced RPS17 protein has 135 amino acids. The authors reported that the RPS17 gene appears to have been stringently conserved during evolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3529092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening a human genomic library with an RPS17 cDNA, <a href="#2" class="mim-tip-reference" title="Chen, I.-T., Roufa, D. J. <strong>The transcriptionally active human ribosomal protein S17 gene.</strong> Gene 70: 107-116, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3240863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3240863</a>] [<a href="https://doi.org/10.1016/0378-1119(88)90109-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3240863">Chen and Roufa (1988)</a> isolated the functional RPS17 gene and 2 processed RPS17 pseudogenes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3240863" 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="Chen, I.-T., Roufa, D. J. <strong>The transcriptionally active human ribosomal protein S17 gene.</strong> Gene 70: 107-116, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3240863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3240863</a>] [<a href="https://doi.org/10.1016/0378-1119(88)90109-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3240863">Chen and Roufa (1988)</a> determined that the functional RPS17 gene contains 5 exons spanning 4 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3240863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By assessing the expression of RPS17 mRNA in rodent/human hybrid cells carrying different human chromosomes, <a href="#6" class="mim-tip-reference" title="Filipenko, M. L., Iantsen, E. I., Muravlev, A. I., Kopantsev, E. P., Karpova, G. G., Mertvetsov, N. P. <strong>Mapping the genes for ribosomal proteins S14 and S17 on human chromosomes using cDNA from a panel of hybrid cells.</strong> Bioorg. Khim. 21: 349-353, 1995. Note: Article in Russian.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7661859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7661859</a>]" pmid="7661859">Filipenko et al. (1995)</a> mapped the functional RPS17 gene to chromosome 15. <a href="#9" class="mim-tip-reference" title="Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. <strong>A map of 75 human ribosomal protein genes.</strong> Genome Res. 8: 509-523, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>] [<a href="https://doi.org/10.1101/gr.8.5.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582194">Kenmochi et al. (1998)</a> mapped the functional RPS17 gene to 15q by somatic cell hybrid and radiation hybrid mapping analyses using an STS derived from an RPS17 intron. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9582194+7661859" 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="Nakamichi, N. N., Kao, F.-T., Wasmuth, J., Roufa, D. J. <strong>Ribosomal protein gene sequences map to human chromosomes 5, 8, and 17.</strong> Somat. Cell Molec. Genet. 12: 225-236, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3459254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3459254</a>] [<a href="https://doi.org/10.1007/BF01570781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3459254">Nakamichi et al. (1986)</a> mapped the RPS17A, or RPS17L1, gene to 5q33-qter and the RPS17B, or RPS17L2, gene to 17q. <a href="#2" class="mim-tip-reference" title="Chen, I.-T., Roufa, D. J. <strong>The transcriptionally active human ribosomal protein S17 gene.</strong> Gene 70: 107-116, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3240863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3240863</a>] [<a href="https://doi.org/10.1016/0378-1119(88)90109-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3240863">Chen and Roufa (1988)</a> stated that the RPS17A and RPS17B genes are not transcriptionally active. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3459254+3240863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 31-year-old Czech man with Diamond-Blackfan anemia (DBA4; <a href="/entry/612527">612527</a>), <a href="#3" class="mim-tip-reference" title="Cmejla, R., Cmejlova, J., Handrkova, H., Petrak, J., Pospisilova, D. <strong>Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.</strong> Hum. Mutat. 28: 1178-1182, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17647292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17647292</a>] [<a href="https://doi.org/10.1002/humu.20608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17647292">Cmejla et al. (2007)</a> identified a heterozygous mutation abolishing the translation initiation start codon of the RPS17 gene (<a href="#0001">180472.0001</a>). The mutation was not found in his apparently healthy brother and parents or in 71 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17647292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male patient with DBA, <a href="#7" class="mim-tip-reference" title="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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.ajhg.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a> identified heterozygosity for a 2-bp deletion in the RPS17 gene (<a href="#0002">180472.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061985" 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="#10" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> performed array CGH for copy number variation in 87 probands with Diamond-Blackfan anemia who were negative for mutation in 10 known DBA-associated ribosomal protein genes and identified 2 nearly identical large deletions involving exons 3, 4, and 5 of the RPS17 gene (<a href="#0003">180472.0003</a>) in 2 male patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" 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>Mammalian ribosomal protein genes are members of multigene families that are composed predominantly of multiple processed pseudogenes and one functional intron-containing gene, which has made the identification and mapping of the functional ribosomal protein genes difficult. Using an intron-containing PCR product for the analysis of rodent/human somatic cell hybrids, <a href="#5" class="mim-tip-reference" title="Feo, S., Davies, B., Fried, M. <strong>The mapping of seven intron-containing ribosomal protein genes shows they are unlinked in the human genome.</strong> Genomics 13: 201-207, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1577483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1577483</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90221-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1577483">Feo et al. (1992)</a> incorrectly mapped the RPS17 gene to chromosome 11pter-p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1577483" 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">rs116840811 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs116840811;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=rs116840811" 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=rs116840811" 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 31-year-old Czech man with Diamond-Blackfan anemia-4 (DBA4; <a href="/entry/612527">612527</a>), <a href="#3" class="mim-tip-reference" title="Cmejla, R., Cmejlova, J., Handrkova, H., Petrak, J., Pospisilova, D. <strong>Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.</strong> Hum. Mutat. 28: 1178-1182, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17647292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17647292</a>] [<a href="https://doi.org/10.1002/humu.20608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17647292">Cmejla et al. (2007)</a> identified a heterozygous 2T-G transversion in exon 1 of the RPS17 gene, causing a met1-to-arg (M1R) substitution that abolishes the ATG translation initiation start codon and is predicted to result in a short peptide of only 4 amino acids, beginning at the next downstream start codon at position +158. The presence of the mutation was confirmed in peripheral blood mononuclear cells, buccal swab, and nails of the patient, and was not found in his apparently healthy brother and parents or in 71 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17647292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 DIAMOND-BLACKFAN ANEMIA 4</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">rs116840812 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs116840812;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=rs116840812" 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=rs116840812" 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=RCV000013874" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013874" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013874</a>
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<p>In a male patient with Diamond-Blackfan anemia (DBA4; <a href="/entry/612527">612527</a>) who was diagnosed at 4 months of age and had no associated malformations, <a href="#7" class="mim-tip-reference" title="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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.ajhg.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a> identified heterozygosity for a 2-bp deletion (200delGA) in exon 3 of the RPS17 gene, resulting in a frameshift causing a termination sequence at codon 86. The mutation was not found in his unaffected parents or sister, or in at least 150 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061985" 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 DIAMOND-BLACKFAN ANEMIA 4</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000074474" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000074474" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000074474</a>
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<p>In 2 male patients with Diamond-Blackfan anemia (DBA4; <a href="/entry/612527">612527</a>), <a href="#10" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> identified heterozygosity for a 2,887-bp and a 2,921-bp deletion at chr15:81,002,660-81,005,546 and chr15:81,002,660-81,005,580 (NCBI36), respectively, containing exons 3, 4, and 5 of the RPS17 gene. One patient was transfusion dependent, whereas the other required red blood cell transfusions 2 to 3 times a year between ages 6 weeks and 6 years, then entered remission; the latter patient was also diagnosed with developmental delay. In his unaffected parents, mPCR showed ratios similar to those of control, indicating that the mutation arose de novo in this patient; DNA was not available from both parents of the other patient. Because mPCR showed reduction of all 5 exons in both patients compared to controls, whereas only exons 3, 4, and 5 were deleted by array CGH, <a href="#10" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> performed copy number assay on patient DNA samples. This showed a 50% reduction of RPS17 DNA in both probands compared to the unaffected parents and controls, indicating deletion of 2 out of 4 copies of RPS17 in both. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" 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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RPS17, TYR53TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs6991 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6991;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=rs6991" 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=rs6991" 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=RCV000087020" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087020" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087020</a>
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<p>In 2 Caucasian sibs with Diamond-Blackfan anemia-4 (DBA4; <a href="/entry/612527">612527</a>), <a href="#8" class="mim-tip-reference" title="Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A. <strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong> Brit. J. Haemat. 162: 530-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>] [<a href="https://doi.org/10.1111/bjh.12397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23718193">Gerrard et al. (2013)</a> identified a heterozygous c.159T-G transversion in exon 3 of the RPS17 gene, resulting in a tyr53-to-ter (Y53X) substitution. One sib was diagnosed at birth, whereas the other sib was diagnosed at age 11 months. One had growth retardation and atrial septal defect; the other had hernia, neutropenia, and high erythrocyte adenosine deaminase in cord blood. Both were treated successfully with steroids. These patients were ascertained from a cohort of 19 patients with DBA who were screened for mutations in 80 ribosomal protein genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23718193" 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>See Also:</strong>
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<a href="#D'Eustachio1981" class="mim-tip-reference" title="D'Eustachio, P., Meyuhas, O., Ruddle, F., Perry, R. P. <strong>Chromosomal distribution of ribosomal protein genes in the mouse.</strong> Cell 24: 307-312, 1981.">D'Eustachio et al. (1981)</a>; <a href="#Woolford1979" class="mim-tip-reference" title="Woolford, J. L., Jr., Hereford, L. M., Rosbash, M. <strong>Isolation of cloned DNA sequences containing ribosomal protein genes from Saccharomyces cerevisiae.</strong> Cell 18: 1247-1259, 1979.">Woolford et al. (1979)</a>
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<strong>REFERENCES</strong>
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<a id="Chen1986" class="mim-anchor"></a>
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Chen, I.-T., Dixit, A., Rhoads, D. D., Roufa, D. J.
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<strong>Homologous ribosomal proteins in bacteria, yeast, and humans.</strong>
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Proc. Nat. Acad. Sci. 83: 6907-6911, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3529092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3529092</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3529092" 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.83.18.6907" target="_blank">Full Text</a>]
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<a id="Chen1988" class="mim-anchor"></a>
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Chen, I.-T., Roufa, D. J.
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<strong>The transcriptionally active human ribosomal protein S17 gene.</strong>
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Gene 70: 107-116, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3240863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3240863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3240863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0378-1119(88)90109-6" target="_blank">Full Text</a>]
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Cmejla, R., Cmejlova, J., Handrkova, H., Petrak, J., Pospisilova, D.
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<strong>Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.</strong>
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Hum. Mutat. 28: 1178-1182, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17647292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17647292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17647292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20608" target="_blank">Full Text</a>]
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D'Eustachio, P., Meyuhas, O., Ruddle, F., Perry, R. P.
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<strong>Chromosomal distribution of ribosomal protein genes in the mouse.</strong>
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Cell 24: 307-312, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7237550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7237550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7237550" 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/10.1016/0092-8674(81)90320-2" target="_blank">Full Text</a>]
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Feo, S., Davies, B., Fried, M.
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<strong>The mapping of seven intron-containing ribosomal protein genes shows they are unlinked in the human genome.</strong>
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Genomics 13: 201-207, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1577483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1577483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1577483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90221-d" target="_blank">Full Text</a>]
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Filipenko, M. L., Iantsen, E. I., Muravlev, A. I., Kopantsev, E. P., Karpova, G. G., Mertvetsov, N. P.
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<strong>Mapping the genes for ribosomal proteins S14 and S17 on human chromosomes using cDNA from a panel of hybrid cells.</strong>
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Bioorg. Khim. 21: 349-353, 1995. Note: Article in Russian.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7661859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7661859</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7661859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Gazda2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others.
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<strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong>
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Am. J. Hum. Genet. 83: 769-780, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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=19061985" 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.2008.11.004" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Gerrard2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A.
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<strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong>
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Brit. J. Haemat. 162: 530-536, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23718193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/bjh.12397" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Kenmochi1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
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<strong>A map of 75 human ribosomal protein genes.</strong>
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Genome Res. 8: 509-523, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582194" 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/gr.8.5.509" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Landowski2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T.
|
|
<strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong>
|
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Hum. Genet. 132: 1265-1274, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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=23812780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-013-1326-z" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Nakamichi1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakamichi, N. N., Kao, F.-T., Wasmuth, J., Roufa, D. J.
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<strong>Ribosomal protein gene sequences map to human chromosomes 5, 8, and 17.</strong>
|
|
Somat. Cell Molec. Genet. 12: 225-236, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3459254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3459254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3459254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01570781" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Woolford1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Woolford, J. L., Jr., Hereford, L. M., Rosbash, M.
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<strong>Isolation of cloned DNA sequences containing ribosomal protein genes from Saccharomyces cerevisiae.</strong>
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|
Cell 18: 1247-1259, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/391408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">391408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=391408" 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/10.1016/0092-8674(79)90236-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/19/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/27/2013<br>Marla J. F. O'Neill - updated : 1/26/2009<br>Marla J. F. O'Neill - updated : 1/13/2009<br>Patti M. Sherman - updated : 5/11/1999<br>Patti M. Sherman - updated : 3/29/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/6/1992
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/18/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 04/20/2015<br>carol : 2/20/2014<br>mcolton : 2/19/2014<br>ckniffin : 2/19/2014<br>carol : 12/2/2013<br>mcolton : 11/27/2013<br>wwang : 1/28/2009<br>terry : 1/26/2009<br>carol : 1/13/2009<br>terry : 1/13/2009<br>psherman : 5/17/1999<br>carol : 5/17/1999<br>psherman : 5/11/1999<br>carol : 4/8/1999<br>carol : 4/8/1999<br>carol : 6/6/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 180472
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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RIBOSOMAL PROTEIN S17; RPS17
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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RIBOSOMAL PROTEIN S17a-LIKE 1, INCLUDED; RPS17L1, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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RIBOSOMAL PROTEIN S17a, INCLUDED; RPS17A, INCLUDED<br />
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RIBOSOMAL PROTEIN S17b-LIKE 2, INCLUDED; RPS17L2, INCLUDED<br />
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RIBOSOMAL PROTEIN S17b, INCLUDED; RPS17B, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RPS17</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 15q25.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:82,536,750-82,540,457 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
|
|
Location
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</th>
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<th>
|
|
Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
|
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<tbody>
|
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<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
15q25.2
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Diamond-Blackfan anemia 4
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
612527
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Chen et al. (1986) cloned a human ribosomal protein S17 (RPS17) cDNA. The deduced RPS17 protein has 135 amino acids. The authors reported that the RPS17 gene appears to have been stringently conserved during evolution. </p><p>By screening a human genomic library with an RPS17 cDNA, Chen and Roufa (1988) isolated the functional RPS17 gene and 2 processed RPS17 pseudogenes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<span class="mim-text-font">
|
|
<p>Chen and Roufa (1988) determined that the functional RPS17 gene contains 5 exons spanning 4 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By assessing the expression of RPS17 mRNA in rodent/human hybrid cells carrying different human chromosomes, Filipenko et al. (1995) mapped the functional RPS17 gene to chromosome 15. Kenmochi et al. (1998) mapped the functional RPS17 gene to 15q by somatic cell hybrid and radiation hybrid mapping analyses using an STS derived from an RPS17 intron. </p><p>Nakamichi et al. (1986) mapped the RPS17A, or RPS17L1, gene to 5q33-qter and the RPS17B, or RPS17L2, gene to 17q. Chen and Roufa (1988) stated that the RPS17A and RPS17B genes are not transcriptionally active. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
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<span class="mim-text-font">
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<p>In a 31-year-old Czech man with Diamond-Blackfan anemia (DBA4; 612527), Cmejla et al. (2007) identified a heterozygous mutation abolishing the translation initiation start codon of the RPS17 gene (180472.0001). The mutation was not found in his apparently healthy brother and parents or in 71 controls. </p><p>In a male patient with DBA, Gazda et al. (2008) identified heterozygosity for a 2-bp deletion in the RPS17 gene (180472.0002). </p><p>Landowski et al. (2013) performed array CGH for copy number variation in 87 probands with Diamond-Blackfan anemia who were negative for mutation in 10 known DBA-associated ribosomal protein genes and identified 2 nearly identical large deletions involving exons 3, 4, and 5 of the RPS17 gene (180472.0003) in 2 male patients. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Mammalian ribosomal protein genes are members of multigene families that are composed predominantly of multiple processed pseudogenes and one functional intron-containing gene, which has made the identification and mapping of the functional ribosomal protein genes difficult. Using an intron-containing PCR product for the analysis of rodent/human somatic cell hybrids, Feo et al. (1992) incorrectly mapped the RPS17 gene to chromosome 11pter-p13. </p>
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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>4 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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<h4>
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<span class="mim-font">
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<strong>.0001 DIAMOND-BLACKFAN ANEMIA 4</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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RPS17, MET1ARG
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<br />
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SNP: rs116840811,
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ClinVar: RCV000013873, RCV002433453
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<span class="mim-text-font">
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<p>In a 31-year-old Czech man with Diamond-Blackfan anemia-4 (DBA4; 612527), Cmejla et al. (2007) identified a heterozygous 2T-G transversion in exon 1 of the RPS17 gene, causing a met1-to-arg (M1R) substitution that abolishes the ATG translation initiation start codon and is predicted to result in a short peptide of only 4 amino acids, beginning at the next downstream start codon at position +158. The presence of the mutation was confirmed in peripheral blood mononuclear cells, buccal swab, and nails of the patient, and was not found in his apparently healthy brother and parents or in 71 controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 DIAMOND-BLACKFAN ANEMIA 4</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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RPS17, 2-BP DEL, 200GA
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<br />
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SNP: rs116840812,
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ClinVar: RCV000013874
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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 male patient with Diamond-Blackfan anemia (DBA4; 612527) who was diagnosed at 4 months of age and had no associated malformations, Gazda et al. (2008) identified heterozygosity for a 2-bp deletion (200delGA) in exon 3 of the RPS17 gene, resulting in a frameshift causing a termination sequence at codon 86. The mutation was not found in his unaffected parents or sister, or in at least 150 controls. </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 DIAMOND-BLACKFAN ANEMIA 4</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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RPS17, 2.9-KB DEL
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<br />
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ClinVar: RCV000074474
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 male patients with Diamond-Blackfan anemia (DBA4; 612527), Landowski et al. (2013) identified heterozygosity for a 2,887-bp and a 2,921-bp deletion at chr15:81,002,660-81,005,546 and chr15:81,002,660-81,005,580 (NCBI36), respectively, containing exons 3, 4, and 5 of the RPS17 gene. One patient was transfusion dependent, whereas the other required red blood cell transfusions 2 to 3 times a year between ages 6 weeks and 6 years, then entered remission; the latter patient was also diagnosed with developmental delay. In his unaffected parents, mPCR showed ratios similar to those of control, indicating that the mutation arose de novo in this patient; DNA was not available from both parents of the other patient. Because mPCR showed reduction of all 5 exons in both patients compared to controls, whereas only exons 3, 4, and 5 were deleted by array CGH, Landowski et al. (2013) performed copy number assay on patient DNA samples. This showed a 50% reduction of RPS17 DNA in both probands compared to the unaffected parents and controls, indicating deletion of 2 out of 4 copies of RPS17 in both. </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 DIAMOND-BLACKFAN ANEMIA 4</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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RPS17, TYR53TER
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<br />
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SNP: rs6991,
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ClinVar: RCV000087020
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Caucasian sibs with Diamond-Blackfan anemia-4 (DBA4; 612527), Gerrard et al. (2013) identified a heterozygous c.159T-G transversion in exon 3 of the RPS17 gene, resulting in a tyr53-to-ter (Y53X) substitution. One sib was diagnosed at birth, whereas the other sib was diagnosed at age 11 months. One had growth retardation and atrial septal defect; the other had hernia, neutropenia, and high erythrocyte adenosine deaminase in cord blood. Both were treated successfully with steroids. These patients were ascertained from a cohort of 19 patients with DBA who were screened for mutations in 80 ribosomal protein genes. </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>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
D'Eustachio et al. (1981); Woolford et al. (1979)
|
|
</span>
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<div>
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<br />
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|
</div>
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
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</h4>
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Chen, I.-T., Dixit, A., Rhoads, D. D., Roufa, D. J.
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<strong>Homologous ribosomal proteins in bacteria, yeast, and humans.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 6907-6911, 1986.
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[PubMed: 3529092]
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[Full Text: https://doi.org/10.1073/pnas.83.18.6907]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Chen, I.-T., Roufa, D. J.
|
|
<strong>The transcriptionally active human ribosomal protein S17 gene.</strong>
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|
Gene 70: 107-116, 1988.
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[PubMed: 3240863]
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[Full Text: https://doi.org/10.1016/0378-1119(88)90109-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cmejla, R., Cmejlova, J., Handrkova, H., Petrak, J., Pospisilova, D.
|
|
<strong>Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.</strong>
|
|
Hum. Mutat. 28: 1178-1182, 2007.
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[PubMed: 17647292]
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[Full Text: https://doi.org/10.1002/humu.20608]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
D'Eustachio, P., Meyuhas, O., Ruddle, F., Perry, R. P.
|
|
<strong>Chromosomal distribution of ribosomal protein genes in the mouse.</strong>
|
|
Cell 24: 307-312, 1981.
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[PubMed: 7237550]
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[Full Text: https://doi.org/10.1016/0092-8674(81)90320-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Feo, S., Davies, B., Fried, M.
|
|
<strong>The mapping of seven intron-containing ribosomal protein genes shows they are unlinked in the human genome.</strong>
|
|
Genomics 13: 201-207, 1992.
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[PubMed: 1577483]
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[Full Text: https://doi.org/10.1016/0888-7543(92)90221-d]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Filipenko, M. L., Iantsen, E. I., Muravlev, A. I., Kopantsev, E. P., Karpova, G. G., Mertvetsov, N. P.
|
|
<strong>Mapping the genes for ribosomal proteins S14 and S17 on human chromosomes using cDNA from a panel of hybrid cells.</strong>
|
|
Bioorg. Khim. 21: 349-353, 1995. Note: Article in Russian.
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[PubMed: 7661859]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others.
|
|
<strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong>
|
|
Am. J. Hum. Genet. 83: 769-780, 2008.
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[PubMed: 19061985]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.11.004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A.
|
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<strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong>
|
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Brit. J. Haemat. 162: 530-536, 2013.
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[PubMed: 23718193]
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[Full Text: https://doi.org/10.1111/bjh.12397]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
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<strong>A map of 75 human ribosomal protein genes.</strong>
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Genome Res. 8: 509-523, 1998.
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[PubMed: 9582194]
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[Full Text: https://doi.org/10.1101/gr.8.5.509]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T.
|
|
<strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong>
|
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Hum. Genet. 132: 1265-1274, 2013.
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[PubMed: 23812780]
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[Full Text: https://doi.org/10.1007/s00439-013-1326-z]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nakamichi, N. N., Kao, F.-T., Wasmuth, J., Roufa, D. J.
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<strong>Ribosomal protein gene sequences map to human chromosomes 5, 8, and 17.</strong>
|
|
Somat. Cell Molec. Genet. 12: 225-236, 1986.
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[PubMed: 3459254]
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[Full Text: https://doi.org/10.1007/BF01570781]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Woolford, J. L., Jr., Hereford, L. M., Rosbash, M.
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<strong>Isolation of cloned DNA sequences containing ribosomal protein genes from Saccharomyces cerevisiae.</strong>
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Cell 18: 1247-1259, 1979.
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[PubMed: 391408]
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[Full Text: https://doi.org/10.1016/0092-8674(79)90236-8]
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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">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/19/2014<br>Marla J. F. O'Neill - updated : 11/27/2013<br>Marla J. F. O'Neill - updated : 1/26/2009<br>Marla J. F. O'Neill - updated : 1/13/2009<br>Patti M. Sherman - updated : 5/11/1999<br>Patti M. Sherman - updated : 3/29/1999
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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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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/6/1992
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</span>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/18/2017<br>alopez : 04/20/2015<br>carol : 2/20/2014<br>mcolton : 2/19/2014<br>ckniffin : 2/19/2014<br>carol : 12/2/2013<br>mcolton : 11/27/2013<br>wwang : 1/28/2009<br>terry : 1/26/2009<br>carol : 1/13/2009<br>terry : 1/13/2009<br>psherman : 5/17/1999<br>carol : 5/17/1999<br>psherman : 5/11/1999<br>carol : 4/8/1999<br>carol : 4/8/1999<br>carol : 6/6/1992
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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