3527 lines
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Entry
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- *603634 - RIBOSOMAL PROTEIN L5; RPL5
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603634</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603634">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000122406;t=ENST00000370321" 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=6125" 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=603634" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000122406;t=ENST00000370321" 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_000969,NR_146333" 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_000969" 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=603634" 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=04699&isoform_id=04699_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/RPL5" 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/550013,1658578,11640568,12804869,14591909,15149518,17932990,62087540,62896767,81097641,81175191,119593493,119593494,119593495,124376648,124376954,189054491,193788244" 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/P46777" 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=6125" 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=ENSG00000122406;t=ENST00000370321" 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=RPL5" 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=RPL5" 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+6125" 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/RPL5" 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:6125" 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/6125" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000370321.8&hgg_start=92831986&hgg_end=92841924&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10360" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/rpl5" 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=603634[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=603634[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/ENSG00000122406" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=RPL5" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=RPL5" 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=RPL5" 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=RPL5" 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=RPL5&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/PA34755" 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:10360" 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/FBgn0064225.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:102854" 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/RPL5#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:102854" 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/6125/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=6125" 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=WBGene00004416;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-030131-5161" 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:6125" 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=RPL5&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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603634
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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 L5; RPL5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RPL5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RPL5</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/1/804?start=-3&limit=10&highlight=804">1p22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:92831986-92841924&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:92,831,986-92,841,924</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/1/804?start=-3&limit=10&highlight=804">
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1p22.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Diamond-Blackfan anemia 6
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612561"> 612561 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/603634" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/603634" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<p>The mammalian ribosome is a macromolecular assembly of 4 RNA species (rRNAs; see <a href="/entry/180450">180450</a>) and approximately 80 different proteins, including RPL5 (<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>). <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'})"><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 searching sequence databases with the partial sequences of randomly selected cDNAs from a human colorectal cDNA library, <a href="#5" class="mim-tip-reference" title="Frigerio, J.-M., Berthezene, P., Garrido, P., Ortiz, E., Barthellemy, S., Vasseur, S., Sastre, B., Seleznieff, I., Dagorn, J. C., Iovanna, J. L. <strong>Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing.</strong> Hum. Molec. Genet. 4: 37-43, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711732</a>] [<a href="https://doi.org/10.1093/hmg/4.1.37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711732">Frigerio et al. (1995)</a> identified cDNAs encoding homologs of rat ribosomal proteins S5 (RPS5; <a href="/entry/603630">603630</a>), S9 (RPS9; <a href="/entry/603631">603631</a>), S10 (RPS10; <a href="/entry/603632">603632</a>), S29 (RPS29; <a href="/entry/603633">603633</a>), L5 (RPL5), L21 (RPL21; <a href="/entry/603636">603636</a>), L27a (RPL27A; <a href="/entry/603637">603637</a>), and L28 (RPL28; <a href="/entry/603638">603638</a>). <a href="#6" class="mim-tip-reference" title="Frigerio, J.-M., Dagorn, J.-C., Iovanna, J. L. <strong>Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs.</strong> Biochim. Biophys. Acta 1262: 64-68, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7772601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7772601</a>] [<a href="https://doi.org/10.1016/0167-4781(95)00045-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7772601">Frigerio et al. (1995)</a> completed the cDNA sequences of these human ribosomal proteins. The deduced 297-amino acid human RPL5 differs from rat Rpl5 by 4 amino acids. Northern blot analysis suggested variable expression of RPL5 in colorectal cancers compared to adjacent normal tissues, although no correlation between the level of expression and the severity of the disease was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7772601+7711732" 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 Northern blot analysis using a rat Rpl5 probe, <a href="#11" class="mim-tip-reference" title="Pogue-Geile, K., Geiser, J. R., Shu, M., Miller, C., Wool, I. G., Meisler, A. I., Pipas, J. M. <strong>Ribosomal protein genes are overexpressed in colorectal cancer: isolation of a cDNA clone encoding the human S3 ribosomal protein.</strong> Molec. Cell. Biol. 11: 3842-3849, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1712897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1712897</a>] [<a href="https://doi.org/10.1128/mcb.11.8.3842-3849.1991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1712897">Pogue-Geile et al. (1991)</a> demonstrated overexpression of RPL5 in human colorectal tumors and polyps relative to matched normal colonic mucosa. RPL5 is expressed as a 1.2-kb transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1712897" 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="Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others. <strong>The ribosomal basis of Diamond-Blackfan anemia: mutation and database update.</strong> Hum. Mutat. 31: 1269-1279, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20960466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20960466</a>] [<a href="https://doi.org/10.1002/humu.21383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20960466">Boria et al. (2010)</a> stated that the RPL5 gene contains 8 exons and spans 9.8 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20960466" 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 both human and mouse, <a href="#12" class="mim-tip-reference" title="Qu, L. H., Nicoloso, M., Michot, B., Azum, M. C., Caizergues-Ferrer, M., Renalier, M. H., Bachellerie, J. P. <strong>U21, a novel small nucleolar RNA with a 13 nt. complementarity to 28S rRNA, is encoded in an intron of ribosomal protein L5 gene in chicken and mammals.</strong> Nucleic Acids Res. 22: 4073-4081, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7937132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7937132</a>] [<a href="https://doi.org/10.1093/nar/22.20.4073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7937132">Qu et al. (1994)</a> found that the U21 snoRNA (<a href="/entry/603635">603635</a>) is encoded in intron 5 of the RPL5 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7937132" 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 somatic cell hybrid and radiation hybrid mapping analyses, <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 RPL5 gene to chromosome 1p. <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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others. <strong>The ribosomal basis of Diamond-Blackfan anemia: mutation and database update.</strong> Hum. Mutat. 31: 1269-1279, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20960466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20960466</a>] [<a href="https://doi.org/10.1002/humu.21383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20960466">Boria et al. (2010)</a> stated that the RPL5 gene maps to chromosome 1p22.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20960466" 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>Impeding ribosomal biogenesis generates ribosomal stress that activates p53 (TP53; <a href="/entry/191170">191170</a>) to stop cell growth. <a href="#3" class="mim-tip-reference" title="Dai, M.-S., Shi, D., Jin, Y., Sun, X.-X., Zhang, Y., Grossman, S. R., Lu, H. <strong>Regulation of the MDM2-p53 pathway by ribosomal protein L11 involves a post-ubiquitination mechanism.</strong> J. Biol. Chem. 281: 24304-24313, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16803902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16803902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16803902[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/10.1074/jbc.M602596200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16803902">Dai et al. (2006)</a> stated that the ribosomal proteins L5, L11 (RPL11; <a href="/entry/604175">604175</a>), and L23 (RPL23; <a href="/entry/603662">603662</a>) interact with MDM2 (<a href="/entry/164785">164785</a>) and inhibit MDM2-mediated p53 ubiquitination and degradation in response to ribosomal stress. They found that L5 and L23 inhibited ubiquitination of both p53 and MDM2 in human cell lines. In contrast, L11 inhibited proteasome-mediated degradation of ubiquitinated MDM2, but not p53, resulting in stabilization of p53. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16803902" 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>Ribosomal protein L5 binds 5S rRNA (see <a href="/entry/180420">180420</a>) to form the ribosomal 5S RNA-protein (5S rRNP) complex. Using polysome assays and crosslinking experiments with in vitro-translated human mRNA, <a href="#10" class="mim-tip-reference" title="Lin, E., Lin, S.-W., Lin, A. <strong>The participation of 5S rRNA in the co-translational formation of a eukaryotic 5S ribonucleoprotein complex.</strong> Nucleic Acids Res. 29: 2510-2516, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11410658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11410658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11410658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/29.12.2510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11410658">Lin et al. (2001)</a> found that the 5S rRNP complex formed only if 5S rRNA was present at the beginning of L5 translation. The 5S rRNP complex was not observed if 5S rRNA was added after completion of L5 synthesis. Mutation analysis revealed that residues 35 through 50 of L5 engaged in the interaction, but the remainder of the L5 protein was required for stable formation of the 5S rRNP complex. Association of L5 with 5S rRNA significantly enhanced L5 nuclear import into injected Xenopus oocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11410658" 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="#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> screened 196 probands with Diamond-Blackfan anemia (see DBA6, <a href="/entry/612561">612561</a>) for mutations in 25 genes encoding ribosomal proteins and identified 15 different mutations in the RPL5 gene in 18 probands and 6 additional family members (see, e.g., <a href="#0001">603634.0001</a>-<a href="#0006">603634.0006</a>); 3 of the mutation-positive patients were from the family with DBA originally described by <a href="#1" class="mim-tip-reference" title="Aase, J. M., Smith, D. W. <strong>Congenital anemia and triphalangeal thumbs: a new syndrome.</strong> J. Pediat. 74: 471-474, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5764780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5764780</a>] [<a href="https://doi.org/10.1016/s0022-3476(69)80208-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5764780">Aase and Smith (1969)</a> (see <a href="#0005">603634.0005</a>). The mutations segregated with disease in multiplex families and were not found in at least 150 controls. Analysis of pre-rRNAs from lymphoblastoid cells established from DBA patients revealed accumulation of 32S and 12S pre-rRNA as well as smaller precursors of 5.8S rRNA compared to controls, indicating defective maturation of internal transcribed spacer-2 (ITS2) both at the initial endonucleolytic cleavage in the 32S pre-rRNA and during subsequent processing steps. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5764780+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="#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 4 different heterozygous truncating mutations in the RPL5 gene (see, e.g., <a href="#0007">603634.0007</a> and <a href="#0008">603634.0008</a>) in 5 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><p><strong><em>Somatic Mutation in T-Cell ALL</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="De Keersmaecker, K., Atak, Z. K., Li, N., Vicente, C., Patchett, S., Girardi, T., Gianfelici, V., Geerdens, E., Clappier, E., Porcu, M., Lahortiga, I., Luca, R., and 18 others. <strong>Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.</strong> Nature Genet. 45: 186-190, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23263491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23263491</a>] [<a href="https://doi.org/10.1038/ng.2508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23263491">De Keersmaecker et al. (2013)</a> identified mutations in the ribosomal protein RPL5 in 4 of 211 (1.9%) pediatric and adult T-cell ALLs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23263491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>8 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603634[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434405 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434405;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=rs121434405" 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=rs121434405" 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=RCV000006556 OR RCV000627210 OR RCV001217229" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006556, RCV000627210, RCV001217229" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006556...</a>
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<p>In a female patient in whom Diamond-Blackfan anemia (DBA6; <a href="/entry/612561">612561</a>) was diagnosed at 2 months of age, who also had cleft lip and palate, <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 de novo 67C-T transition in exon 2 of the RPL5 gene, resulting in an arg23-to-ter (R23X) substitution. The mutation was not found in her unaffected parents 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121434406 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434406;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121434406?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121434406" 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=rs121434406" 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=RCV000006557 OR RCV000499952 OR RCV001306122 OR RCV002460888" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006557, RCV000499952, RCV001306122, RCV002460888" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006557...</a>
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<p>In a male patient in whom Diamond-Blackfan anemia (DBA6; <a href="/entry/612561">612561</a>) was diagnosed at 3 months of age, who 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 418G-A transition in exon 5 of the RPL5 gene, resulting in a gly140-to-ser (G140S) substitution. The mutation was also identified in his father, who did not have anemia, but was not found in his unaffected mother or 2 sibs 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 6</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">rs1571024430 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1571024430;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=rs1571024430" 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=rs1571024430" 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=RCV000006558 OR RCV000819548" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006558, RCV000819548" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006558...</a>
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<p>In 1 female and 2 male patients with Diamond-Blackfan anemia (DBA6; <a href="/entry/612561">612561</a>), 2 of whom were known to have multiple associated anomalies, <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 (173delGA) in exon 3 of the RPL5 gene, resulting in a frameshift causing a termination sequence at codon 111. Associated features in 1 of the male patients included bilateral long proximal thumb phalanges and multiple congenital heart defects, including double outlet right ventricle, pulmonary stenosis, left pulmonary artery stenosis, and patent ductus arteriosus; the other male patient had a small jaw, cleft palate, bronchiopharyngeal malacia, and mild hydrocephalus; clinical information was not available for the female patient. The mutation was not found in the unaffected parents or 2 sibs of the female patient, 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1571026775 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1571026775;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=rs1571026775" 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=rs1571026775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 female patients with Diamond-Blackfan anemia (DBA6; <a href="/entry/612561">612561</a>), both of whom had associated anomalies, <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 1-bp insertion (235insT) in exon 4 of the RPL5 gene, resulting in a frameshift causing a termination sequence at codon 112. One of the patients also had cleft soft palate, and the other had cleft palate, bifid uvula, and hypoplastic thumb. The mutation was identified in the mothers of both patients, respectively, both of whom had macrocytic anemia with no associated anomalies, and the mutation was not found 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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<p>In affected members of a family with Diamond-Blackfan anemia (DBA6; <a href="/entry/612561">612561</a>) and associated triphalangeal thumbs, originally reported by <a href="#1" class="mim-tip-reference" title="Aase, J. M., Smith, D. W. <strong>Congenital anemia and triphalangeal thumbs: a new syndrome.</strong> J. Pediat. 74: 471-474, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5764780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5764780</a>] [<a href="https://doi.org/10.1016/s0022-3476(69)80208-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5764780">Aase and Smith (1969)</a>, <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 5-bp deletion/39-bp insertion (498delTGTGGins39) in exon 5 of the RPL5 gene, resulting in frameshift and premature termination of the protein at codon 216. The male proband had ventricular septal defect in addition to triphalangeal thumbs; the mutation was also identified in his affected brother, who had cleft lip and triphalangeal thumbs, and in his affected daughter, for whom phenotype information was unavailable. The mutation was not found in the proband's unaffected parents or sister, or in at least 150 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5764780+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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs142156224 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs142156224;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=rs142156224" 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=rs142156224" 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=RCV000006561" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006561" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006561</a>
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<p>In a male patient with Diamond-Blackfan anemia (DBA6; <a href="/entry/612561">612561</a>) who 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 de novo T-G transversion at the donor splice site in intron 2 (IVS2DS+2T-G) of the RPL5 gene, resulting in premature termination of the protein. The mutation was not found in patient's unaffected parents or brother, 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777117 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777117;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=rs587777117" 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=rs587777117" 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=RCV000087038 OR RCV002444558" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087038, RCV002444558" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087038...</a>
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<p>In a mother and daughter with DBA6 (<a href="/entry/612561">612561</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.244G-T transversion in exon 4 of the RPL5 gene, resulting in a glu82-to-ter (E82X) substitution. The 39-year-old mother was diagnosed at 5 years of age. She had growth retardation, osteoporosis, thumb abnormalities, and hepatic iron overload. Her 10-year-old daughter had intrauterine growth retardation and dental distress, and was diagnosed at birth. She had Cathie facies, cleft palate, ventricular septal defect, vitamin D deficiency, and iron overload. Both had increased erythrocyte adenosine deaminase (ADA; <a href="/entry/608958">608958</a>). The mother's disorder was steroid-responsive, whereas the daughter developed secondary steroid resistance. <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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RPL5, GLN222TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777118 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777118;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=rs587777118" 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=rs587777118" 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=RCV000087039" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087039" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087039</a>
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<p>In a 4-year-old Caucasian boy with DBA6 (<a href="/entry/612561">612561</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.664C-T transition in exon 6 of the RPL5 gene, resulting in a gln222-to-ter (Q222X) substitution. The patient was diagnosed at age 7 weeks. He had growth retardation, cleft palate, esophageal strictures, eosinophilic esophagitis, triphalangeal thumbs, and hepatic iron overload. He was transfusion-dependent. <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>REFERENCES</strong>
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Aase, J. M., Smith, D. W.
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<strong>Congenital anemia and triphalangeal thumbs: a new syndrome.</strong>
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J. Pediat. 74: 471-474, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5764780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5764780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5764780" 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/s0022-3476(69)80208-8" target="_blank">Full Text</a>]
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Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others.
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<strong>The ribosomal basis of Diamond-Blackfan anemia: mutation and database update.</strong>
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Hum. Mutat. 31: 1269-1279, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20960466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20960466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20960466" 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.21383" target="_blank">Full Text</a>]
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Dai, M.-S., Shi, D., Jin, Y., Sun, X.-X., Zhang, Y., Grossman, S. R., Lu, H.
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<strong>Regulation of the MDM2-p53 pathway by ribosomal protein L11 involves a post-ubiquitination mechanism.</strong>
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J. Biol. Chem. 281: 24304-24313, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16803902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16803902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16803902[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=16803902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M602596200" target="_blank">Full Text</a>]
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De Keersmaecker, K., Atak, Z. K., Li, N., Vicente, C., Patchett, S., Girardi, T., Gianfelici, V., Geerdens, E., Clappier, E., Porcu, M., Lahortiga, I., Luca, R., and 18 others.
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<strong>Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.</strong>
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Nature Genet. 45: 186-190, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23263491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23263491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23263491" 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/10.1038/ng.2508" target="_blank">Full Text</a>]
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Frigerio, J.-M., Berthezene, P., Garrido, P., Ortiz, E., Barthellemy, S., Vasseur, S., Sastre, B., Seleznieff, I., Dagorn, J. C., Iovanna, J. L.
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<strong>Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing.</strong>
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Hum. Molec. Genet. 4: 37-43, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/4.1.37" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Frigerio1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Frigerio, J.-M., Dagorn, J.-C., Iovanna, J. L.
|
|
<strong>Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs.</strong>
|
|
Biochim. Biophys. Acta 1262: 64-68, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7772601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7772601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7772601" 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/10.1016/0167-4781(95)00045-i" target="_blank">Full Text</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.
|
|
<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: <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.
|
|
<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.
|
|
<strong>A map of 75 human ribosomal protein genes.</strong>
|
|
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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<a id="10" class="mim-anchor"></a>
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<a id="Lin2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lin, E., Lin, S.-W., Lin, A.
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<strong>The participation of 5S rRNA in the co-translational formation of a eukaryotic 5S ribonucleoprotein complex.</strong>
|
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Nucleic Acids Res. 29: 2510-2516, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11410658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11410658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11410658[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=11410658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/29.12.2510" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Pogue-Geile1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pogue-Geile, K., Geiser, J. R., Shu, M., Miller, C., Wool, I. G., Meisler, A. I., Pipas, J. M.
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<strong>Ribosomal protein genes are overexpressed in colorectal cancer: isolation of a cDNA clone encoding the human S3 ribosomal protein.</strong>
|
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Molec. Cell. Biol. 11: 3842-3849, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1712897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1712897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1712897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/mcb.11.8.3842-3849.1991" 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="Qu1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Qu, L. H., Nicoloso, M., Michot, B., Azum, M. C., Caizergues-Ferrer, M., Renalier, M. H., Bachellerie, J. P.
|
|
<strong>U21, a novel small nucleolar RNA with a 13 nt. complementarity to 28S rRNA, is encoded in an intron of ribosomal protein L5 gene in chicken and mammals.</strong>
|
|
Nucleic Acids Res. 22: 4073-4081, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7937132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7937132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7937132" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/22.20.4073" 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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Ada Hamosh - updated : 4/9/2013<br>Patricia A. Hartz - updated : 8/3/2011<br>Cassandra L. Kniffin - updated : 3/24/2011<br>Patricia A. Hartz - updated : 1/20/2010<br>Marla J. F. O'Neill - updated : 1/26/2009
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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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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Patti M. Sherman : 3/12/1999
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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="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 : 02/20/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="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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mcolton : 2/19/2014<br>ckniffin : 2/19/2014<br>alopez : 4/9/2013<br>mgross : 10/13/2011<br>terry : 8/3/2011<br>wwang : 3/24/2011<br>mgross : 1/21/2010<br>terry : 1/20/2010<br>wwang : 1/29/2009<br>terry : 1/26/2009<br>carol : 3/19/1999<br>carol : 3/19/1999
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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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</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> 603634
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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 L5; RPL5
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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-text-font">
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<strong><em>HGNC Approved Gene Symbol: RPL5</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: 1p22.1
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:92,831,986-92,841,924 </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>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
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1p22.1
|
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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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Diamond-Blackfan anemia 6
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
612561
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
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">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>The mammalian ribosome is a macromolecular assembly of 4 RNA species (rRNAs; see 180450) and approximately 80 different proteins, including RPL5 (Kenmochi et al., 1998). </p>
|
|
</span>
|
|
<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By searching sequence databases with the partial sequences of randomly selected cDNAs from a human colorectal cDNA library, Frigerio et al. (1995) identified cDNAs encoding homologs of rat ribosomal proteins S5 (RPS5; 603630), S9 (RPS9; 603631), S10 (RPS10; 603632), S29 (RPS29; 603633), L5 (RPL5), L21 (RPL21; 603636), L27a (RPL27A; 603637), and L28 (RPL28; 603638). Frigerio et al. (1995) completed the cDNA sequences of these human ribosomal proteins. The deduced 297-amino acid human RPL5 differs from rat Rpl5 by 4 amino acids. Northern blot analysis suggested variable expression of RPL5 in colorectal cancers compared to adjacent normal tissues, although no correlation between the level of expression and the severity of the disease was found. </p><p>By Northern blot analysis using a rat Rpl5 probe, Pogue-Geile et al. (1991) demonstrated overexpression of RPL5 in human colorectal tumors and polyps relative to matched normal colonic mucosa. RPL5 is expressed as a 1.2-kb transcript. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Boria et al. (2010) stated that the RPL5 gene contains 8 exons and spans 9.8 kb. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In both human and mouse, Qu et al. (1994) found that the U21 snoRNA (603635) is encoded in intron 5 of the RPL5 gene. </p><p>By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi et al. (1998) mapped the RPL5 gene to chromosome 1p. </p><p>Boria et al. (2010) stated that the RPL5 gene maps to chromosome 1p22.1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Impeding ribosomal biogenesis generates ribosomal stress that activates p53 (TP53; 191170) to stop cell growth. Dai et al. (2006) stated that the ribosomal proteins L5, L11 (RPL11; 604175), and L23 (RPL23; 603662) interact with MDM2 (164785) and inhibit MDM2-mediated p53 ubiquitination and degradation in response to ribosomal stress. They found that L5 and L23 inhibited ubiquitination of both p53 and MDM2 in human cell lines. In contrast, L11 inhibited proteasome-mediated degradation of ubiquitinated MDM2, but not p53, resulting in stabilization of p53. </p><p>Ribosomal protein L5 binds 5S rRNA (see 180420) to form the ribosomal 5S RNA-protein (5S rRNP) complex. Using polysome assays and crosslinking experiments with in vitro-translated human mRNA, Lin et al. (2001) found that the 5S rRNP complex formed only if 5S rRNA was present at the beginning of L5 translation. The 5S rRNP complex was not observed if 5S rRNA was added after completion of L5 synthesis. Mutation analysis revealed that residues 35 through 50 of L5 engaged in the interaction, but the remainder of the L5 protein was required for stable formation of the 5S rRNP complex. Association of L5 with 5S rRNA significantly enhanced L5 nuclear import into injected Xenopus oocytes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia (see DBA6, 612561) for mutations in 25 genes encoding ribosomal proteins and identified 15 different mutations in the RPL5 gene in 18 probands and 6 additional family members (see, e.g., 603634.0001-603634.0006); 3 of the mutation-positive patients were from the family with DBA originally described by Aase and Smith (1969) (see 603634.0005). The mutations segregated with disease in multiplex families and were not found in at least 150 controls. Analysis of pre-rRNAs from lymphoblastoid cells established from DBA patients revealed accumulation of 32S and 12S pre-rRNA as well as smaller precursors of 5.8S rRNA compared to controls, indicating defective maturation of internal transcribed spacer-2 (ITS2) both at the initial endonucleolytic cleavage in the 32S pre-rRNA and during subsequent processing steps. </p><p>Gerrard et al. (2013) identified 4 different heterozygous truncating mutations in the RPL5 gene (see, e.g., 603634.0007 and 603634.0008) in 5 of 19 patients with DBA who were screened for mutations in 80 ribosomal protein genes. </p><p><strong><em>Somatic Mutation in T-Cell ALL</em></strong></p><p>
|
|
De Keersmaecker et al. (2013) identified mutations in the ribosomal protein RPL5 in 4 of 211 (1.9%) pediatric and adult T-cell ALLs. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
|
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<div>
|
|
<p />
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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>.0001 DIAMOND-BLACKFAN ANEMIA 6</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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RPL5, ARG23TER
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<br />
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SNP: rs121434405,
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ClinVar: RCV000006556, RCV000627210, RCV001217229
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a female patient in whom Diamond-Blackfan anemia (DBA6; 612561) was diagnosed at 2 months of age, who also had cleft lip and palate, Gazda et al. (2008) identified heterozygosity for a de novo 67C-T transition in exon 2 of the RPL5 gene, resulting in an arg23-to-ter (R23X) substitution. The mutation was not found in her unaffected parents 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">
|
|
<strong>.0002 DIAMOND-BLACKFAN ANEMIA 6</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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RPL5, GLY140SER
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<br />
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|
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SNP: rs121434406,
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|
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gnomAD: rs121434406,
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|
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ClinVar: RCV000006557, RCV000499952, RCV001306122, RCV002460888
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|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male patient in whom Diamond-Blackfan anemia (DBA6; 612561) was diagnosed at 3 months of age, who had no associated malformations, Gazda et al. (2008) identified heterozygosity for a 418G-A transition in exon 5 of the RPL5 gene, resulting in a gly140-to-ser (G140S) substitution. The mutation was also identified in his father, who did not have anemia, but was not found in his unaffected mother or 2 sibs or in at least 150 controls. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DIAMOND-BLACKFAN ANEMIA 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
RPL5, 2-BP DEL, 173GA
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|
<br />
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|
|
SNP: rs1571024430,
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|
|
ClinVar: RCV000006558, RCV000819548
|
|
|
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|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 female and 2 male patients with Diamond-Blackfan anemia (DBA6; 612561), 2 of whom were known to have multiple associated anomalies, Gazda et al. (2008) identified heterozygosity for a 2-bp deletion (173delGA) in exon 3 of the RPL5 gene, resulting in a frameshift causing a termination sequence at codon 111. Associated features in 1 of the male patients included bilateral long proximal thumb phalanges and multiple congenital heart defects, including double outlet right ventricle, pulmonary stenosis, left pulmonary artery stenosis, and patent ductus arteriosus; the other male patient had a small jaw, cleft palate, bronchiopharyngeal malacia, and mild hydrocephalus; clinical information was not available for the female patient. The mutation was not found in the unaffected parents or 2 sibs of the female patient, or in at least 150 controls. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 DIAMOND-BLACKFAN ANEMIA 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPL5, 1-BP INS, 235T
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|
|
<br />
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|
|
SNP: rs1571026775,
|
|
|
|
|
|
|
|
ClinVar: RCV000006559
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 female patients with Diamond-Blackfan anemia (DBA6; 612561), both of whom had associated anomalies, Gazda et al. (2008) identified heterozygosity for a 1-bp insertion (235insT) in exon 4 of the RPL5 gene, resulting in a frameshift causing a termination sequence at codon 112. One of the patients also had cleft soft palate, and the other had cleft palate, bifid uvula, and hypoplastic thumb. The mutation was identified in the mothers of both patients, respectively, both of whom had macrocytic anemia with no associated anomalies, and the mutation was not found in at least 150 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 DIAMOND-BLACKFAN ANEMIA 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPL5, 5-BP DEL/39-BP INS, NT498
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000006560
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with Diamond-Blackfan anemia (DBA6; 612561) and associated triphalangeal thumbs, originally reported by Aase and Smith (1969), Gazda et al. (2008) identified heterozygosity for a 5-bp deletion/39-bp insertion (498delTGTGGins39) in exon 5 of the RPL5 gene, resulting in frameshift and premature termination of the protein at codon 216. The male proband had ventricular septal defect in addition to triphalangeal thumbs; the mutation was also identified in his affected brother, who had cleft lip and triphalangeal thumbs, and in his affected daughter, for whom phenotype information was unavailable. The mutation was not found in the proband's unaffected parents or sister, or in at least 150 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DIAMOND-BLACKFAN ANEMIA 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPL5, IVS2DS, T-G, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs142156224,
|
|
|
|
|
|
|
|
ClinVar: RCV000006561
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male patient with Diamond-Blackfan anemia (DBA6; 612561) who had no associated malformations, Gazda et al. (2008) identified heterozygosity for a de novo T-G transversion at the donor splice site in intron 2 (IVS2DS+2T-G) of the RPL5 gene, resulting in premature termination of the protein. The mutation was not found in patient's unaffected parents or brother, or in at least 150 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DIAMOND-BLACKFAN ANEMIA 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPL5, GLU82TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777117,
|
|
|
|
|
|
|
|
ClinVar: RCV000087038, RCV002444558
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and daughter with DBA6 (612561), Gerrard et al. (2013) identified a heterozygous c.244G-T transversion in exon 4 of the RPL5 gene, resulting in a glu82-to-ter (E82X) substitution. The 39-year-old mother was diagnosed at 5 years of age. She had growth retardation, osteoporosis, thumb abnormalities, and hepatic iron overload. Her 10-year-old daughter had intrauterine growth retardation and dental distress, and was diagnosed at birth. She had Cathie facies, cleft palate, ventricular septal defect, vitamin D deficiency, and iron overload. Both had increased erythrocyte adenosine deaminase (ADA; 608958). The mother's disorder was steroid-responsive, whereas the daughter developed secondary steroid resistance. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 DIAMOND-BLACKFAN ANEMIA 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RPL5, GLN222TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777118,
|
|
|
|
|
|
|
|
ClinVar: RCV000087039
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old Caucasian boy with DBA6 (612561), Gerrard et al. (2013) identified a heterozygous c.664C-T transition in exon 6 of the RPL5 gene, resulting in a gln222-to-ter (Q222X) substitution. The patient was diagnosed at age 7 weeks. He had growth retardation, cleft palate, esophageal strictures, eosinophilic esophagitis, triphalangeal thumbs, and hepatic iron overload. He was transfusion-dependent. </p>
|
|
</span>
|
|
</div>
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aase, J. M., Smith, D. W.
|
|
<strong>Congenital anemia and triphalangeal thumbs: a new syndrome.</strong>
|
|
J. Pediat. 74: 471-474, 1969.
|
|
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|
|
[PubMed: 5764780]
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|
|
[Full Text: https://doi.org/10.1016/s0022-3476(69)80208-8]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others.
|
|
<strong>The ribosomal basis of Diamond-Blackfan anemia: mutation and database update.</strong>
|
|
Hum. Mutat. 31: 1269-1279, 2010.
|
|
|
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|
|
[PubMed: 20960466]
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|
|
[Full Text: https://doi.org/10.1002/humu.21383]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Dai, M.-S., Shi, D., Jin, Y., Sun, X.-X., Zhang, Y., Grossman, S. R., Lu, H.
|
|
<strong>Regulation of the MDM2-p53 pathway by ribosomal protein L11 involves a post-ubiquitination mechanism.</strong>
|
|
J. Biol. Chem. 281: 24304-24313, 2006.
|
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|
|
[PubMed: 16803902]
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[Full Text: https://doi.org/10.1074/jbc.M602596200]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
De Keersmaecker, K., Atak, Z. K., Li, N., Vicente, C., Patchett, S., Girardi, T., Gianfelici, V., Geerdens, E., Clappier, E., Porcu, M., Lahortiga, I., Luca, R., and 18 others.
|
|
<strong>Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.</strong>
|
|
Nature Genet. 45: 186-190, 2013.
|
|
|
|
|
|
[PubMed: 23263491]
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|
|
[Full Text: https://doi.org/10.1038/ng.2508]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Frigerio, J.-M., Berthezene, P., Garrido, P., Ortiz, E., Barthellemy, S., Vasseur, S., Sastre, B., Seleznieff, I., Dagorn, J. C., Iovanna, J. L.
|
|
<strong>Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing.</strong>
|
|
Hum. Molec. Genet. 4: 37-43, 1995.
|
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|
|
[PubMed: 7711732]
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[Full Text: https://doi.org/10.1093/hmg/4.1.37]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frigerio, J.-M., Dagorn, J.-C., Iovanna, J. L.
|
|
<strong>Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs.</strong>
|
|
Biochim. Biophys. Acta 1262: 64-68, 1995.
|
|
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|
|
[PubMed: 7772601]
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|
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|
|
[Full Text: https://doi.org/10.1016/0167-4781(95)00045-i]
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</p>
|
|
</li>
|
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|
<li>
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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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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>The participation of 5S rRNA in the co-translational formation of a eukaryotic 5S ribonucleoprotein complex.</strong>
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Pogue-Geile, K., Geiser, J. R., Shu, M., Miller, C., Wool, I. G., Meisler, A. I., Pipas, J. M.
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<strong>Ribosomal protein genes are overexpressed in colorectal cancer: isolation of a cDNA clone encoding the human S3 ribosomal protein.</strong>
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