4020 lines
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4020 lines
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Entry
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- *314850 - KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK
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- OMIM
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<p>
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<span class="h4">*314850</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#otherFeatures">Other Features</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 role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/314850">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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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<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=ENSG00000047597;t=ENST00000378616" 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=7504" 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=314850" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span 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=ENSG00000047597;t=ENST00000378616" 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_021083,XM_011543978" 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_021083" 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=314850" 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=02444&isoform_id=02444_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/XK" 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/4883433,10835267,23271200,46948351,66268803,82581283,85700269,119579858,212288673,723777341,768033855,1216495396,1370705234,1450277752,1624802892,2022611737,2168442888,2462630805" 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/P51811" 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=7504" 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=ENSG00000047597;t=ENST00000378616" 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=XK" 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=XK" 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+7504" 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/XK" 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:7504" 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/7504" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000378616.5&hgg_start=37685791&hgg_end=37732130&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/xk" 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=314850[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=314850[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/XK/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000047597" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=XK" 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=XK" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/XK" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">XK database at LOVD</a></div><div style="margin-left: 0.5em;"><a href="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home" title="Blood Group Antigen Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Blood Group Antigen Mutati…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=XK&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/PA37410" 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:12811" 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://www.mousephenotype.org/data/genes/MGI:103569" 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/XK#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:103569" 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/7504/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=7504" 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://zfin.org/ZDB-GENE-080908-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:314850" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=XK&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 234411007<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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314850
|
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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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KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
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KELL BLOOD GROUP PRECURSOR<br />
|
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XK LOCUS<br />
|
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PRECURSOR SUBSTANCE, KELL BLOOD GROUP; KX<br />
|
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KELL COMPLEX, 37-KD COMPONENT
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=XK" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">XK</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>
|
|
Cytogenetic location: <a href="/geneMap/X/156?start=-3&limit=10&highlight=156">Xp21.1</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:37685791-37732130&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:37,685,791-37,732,130</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>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/156?start=-3&limit=10&highlight=156">
|
|
Xp21.1
|
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</a>
|
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</span>
|
|
</td>
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|
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|
|
<td>
|
|
<span class="mim-font">
|
|
McLeod syndrome
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/300842"> 300842 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
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<p>The XK gene encodes a putative membrane transporter that is expressed ubiquitously, but found mainly in nervous tissue, heart, and red blood cells. In red blood cells XK is covalently linked to Kell glycoprotein (<a href="/entry/613883">613883</a>) through a disulfide bond, forming a complex on the cell surface. There is a correlation between expression of Kell and XK; thus, XK levels are reduced when Kell is absent and vice versa (summary by <a href="#5" class="mim-tip-reference" title="Dubielecka, P. M., Hwynn, N., Sengun, C., Lee, S., Lomas-Francis, C., Singer, C., Fernandez, H. H., Walker, R. H. <strong>Two McLeod patients with novel mutations in XK.</strong> J. Neurol. Sci. 305: 160-164, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21463873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21463873</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21463873[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.jns.2011.02.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21463873">Dubielecka et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21463873" 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="#8" class="mim-tip-reference" title="Ho, M., Chelly, J., Carter, N., Danek, A., Crocker, P., Monaco, A. P. <strong>Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.</strong> Cell 77: 869-880, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004674</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90136-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004674">Ho et al. (1994)</a> assembled a cosmid contig of 360 kb that encompassed the XK locus and, by screening DNA from patients with radiolabeled whole cosmids, detected a 50-kb deletion. Two transcription units were identified within this deletion. The mRNA expression pattern of one of them, designated XK, correlated closely with the McLeod phenotype (MCLDS; <a href="/entry/300842">300842</a>). Two unrelated patients with no deletions or rearrangements detected on pulsed field gel electrophoresis and Southern blot analysis were examined for the presence of point mutations. The strategy involved direct sequence analysis of PCR products derived from genomic DNA samples that were isolated from patients' leukocytes. In 1 patient, a mutation was found in the donor splice site of intron 2, and in the second, a mutation in the acceptor splice site of intron 2. The predicted protein product of XK is composed of 444 amino acids with a calculated molecular weight of 50,913 daltons. The protein shared structural characteristics with membrane transport proteins of prokaryotes and eukaryotes. The neurologic abnormalities in McLeod syndrome correlate well with the high levels of expression of XK in the brain. Striatal degeneration with the development of chorea in McLeod syndrome can probably be explained thereby. Late-onset muscular dystrophy and cardiomyopathy also correlate well with a high expression of XK in skeletal and cardiac muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004674" 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="#21" class="mim-tip-reference" title="Stanfield, G. M., Horvitz, H. R. <strong>The ced-8 gene controls the timing of programmed cell deaths in C. elegans.</strong> Molec. Cell 5: 423-433, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882128</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80437-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10882128">Stanfield and Horvitz (2000)</a> found that the 458-amino acid Ced8 transmembrane protein of C. elegans is weakly similar to the human XK protein. The Ced8 and XK proteins share 19% amino acid identity, have similar hydropathy plots, and both contain 10 hydrophobic predicted membrane-spanning segments. The authors showed that loss-of-function mutations in the Ced8 gene lead to the late appearance of cell corpses during embryonic development in C. elegans. Ced8 functions downstream of or in parallel to the regulatory cell death gene Ced9 and may function as a cell death effector downstream of the caspase encoded by the programmed cell death killer gene Ced3. <a href="#21" class="mim-tip-reference" title="Stanfield, G. M., Horvitz, H. R. <strong>The ced-8 gene controls the timing of programmed cell deaths in C. elegans.</strong> Molec. Cell 5: 423-433, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882128</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80437-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10882128">Stanfield and Horvitz (2000)</a> suggested that in Ced8 mutants, embryonic programmed cell death probably initiates normally but proceeds slowly. The Ced8 protein appeared to be localized to the plasma membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10882128" 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>The XK gene contains 3 exons (<a href="#8" class="mim-tip-reference" title="Ho, M., Chelly, J., Carter, N., Danek, A., Crocker, P., Monaco, A. P. <strong>Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.</strong> Cell 77: 869-880, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004674</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90136-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004674">Ho et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004674" 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="#16" class="mim-tip-reference" title="Marsh, W. L. <strong>The Kell blood groups and their relationship to chronic granulomatous disease. In: Steane, E. A. (ed.): Cellular Antigens and Disease.</strong> Washington, D.C.: Am. Assoc. Blood Banks 1977. Pp. 52-66."None>Marsh (1977)</a> showed that the XK locus, which controls synthesis of the Kell blood group 'precursor substance' (Kx), is X-linked. The XK locus is inactivated by lyonization.</p><p>The XK and Xg (<a href="/entry/314700">314700</a>) loci are closely linked (<a href="#4" class="mim-tip-reference" title="Densen, P., Wilkinson-Kroovand, S., Mandell, G. L., Sullivan, G., Oyen, R., Marsh, W. L. <strong>Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.</strong> Blood 58: 34-37, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7236890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7236890</a>]" pmid="7236890">Densen et al., 1981</a>). <a href="#19" class="mim-tip-reference" title="Marsh, W. L. <strong>Linkage relationship of the Xg and Xk loci.</strong> Cytogenet. Cell Genet. 22: 531-533, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/88302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">88302</a>] [<a href="https://doi.org/10.1159/000131017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="88302">Marsh (1978)</a> reported a total lod score of 3.426 for theta of 0.0. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=88302+7236890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Ho, M. F., Monaco, A. P., Blonden, L. A. J., van Ommen, G. J. B., Affara, N. A., Ferguson-Smith, M. A., Lehrach, H. <strong>Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.</strong> Am. J. Hum. Genet. 50: 317-330, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1734714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1734714</a>]" pmid="1734714">Ho et al. (1992)</a> constructed a long-range restriction map of Xp21, encompassing the gene loci for McLeod and chronic granulomatous disease (CGD; <a href="/entry/306400">306400</a>). Multiple CpG islands were found clustered in a 700-kb region. Using a new marker, DXS709, they limited the McLeod syndrome region to a 150- to 380-kb segment. Within this interval, 2 CpG-rich islands that may represent candidate sites for the McLeod gene were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1734714" 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="Ho, M., Chelly, J., Carter, N., Danek, A., Crocker, P., Monaco, A. P. <strong>Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.</strong> Cell 77: 869-880, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004674</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90136-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004674">Ho et al. (1994)</a> identified the XK gene on chromosome Xp21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004674" 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>XK is located close to the genes responsible for chronic granulomatous disease (CYBB; <a href="/entry/300481">300481</a>) and Duchenne muscular dystrophy (DMD; <a href="/entry/300377">300377</a>) on the X chromosome (summary by <a href="#11" class="mim-tip-reference" title="Jung, H. H., Danek, A., Frey, B. M. <strong>McLeod syndrome: a neurohaematological disorder.</strong> Vox Sang. 93: 112-121, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17683354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17683354</a>] [<a href="https://doi.org/10.1111/j.1423-0410.2007.00949.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17683354">Jung et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17683354" 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>The Kell precursor substance becomes evident in persons homozygous for a 'silent' allele at the Kell locus (K0). In such cases, none of the Kell antigens can be detected but a strong Kx reaction is demonstrable with both red and white cells. Such persons are clinically and hematologically normal. The McLeod phenotype is caused by an X-linked mutation leading to lack of Kx substance (summary by <a href="#17" class="mim-tip-reference" title="Marsh, W. L. <strong>Chronic granulomatous disease, Kx antigen and the Kell blood groups. In: Brewer, G. J. (ed.): Progress in Clinical and Biological Research: The Red Cell.</strong> New York: Alan R. Liss (pub.) 1978. Pp. 493-507."None>Marsh, 1978</a>).</p><p><a href="#11" class="mim-tip-reference" title="Jung, H. H., Danek, A., Frey, B. M. <strong>McLeod syndrome: a neurohaematological disorder.</strong> Vox Sang. 93: 112-121, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17683354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17683354</a>] [<a href="https://doi.org/10.1111/j.1423-0410.2007.00949.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17683354">Jung et al. (2007)</a> stated that the KX antigen, formerly KEL15, had been regrouped into the new antigen system 019 (XK019001). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17683354" 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>Variant alleles at the XK locus determine synthesis of permutations of Kx antigenicity on white and red cells. Absence of Kx antigen on red cells is associated with the McLeod phenomenon in the Kell system (see <a href="/entry/110900">110900</a>), i.e., they react little or not at all with various antisera in the Kell system. (It was first discovered by <a href="#1" class="mim-tip-reference" title="Allen, F. H., Krabbe, S. M. R., Corcoran, P. A. <strong>A new phenotype (McLeod) in the Kell blood-group system.</strong> Vox Sang. 6: 555-560, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13860532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13860532</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1961.tb03203.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13860532">Allen et al. (1961)</a> in a blood donor named Hugh McLeod.) Absence of leukocyte Kx antigen is associated with X-linked chronic granulomatous disease (summary by <a href="#16" class="mim-tip-reference" title="Marsh, W. L. <strong>The Kell blood groups and their relationship to chronic granulomatous disease. In: Steane, E. A. (ed.): Cellular Antigens and Disease.</strong> Washington, D.C.: Am. Assoc. Blood Banks 1977. Pp. 52-66."None>Marsh, 1977</a>). In 1970, Mr. McLeod's red cells were noted to be acanthocytic in the absence of abetalipoproteinemia. Mr. McLeod had normal white cell Kx. He did have a compensated hemolytic state (<a href="#24" class="mim-tip-reference" title="Wimer, B. M., Marsh, W. L., Taswell, H. F. <strong>Clinical characteristics of the McLeod blood group phenotype. (Abstract)</strong> American Society of Hematology Meeting, Boston 1976."None>Wimer et al., 1976</a>). Evidence for X-linkage of XK is provided by mosaicism for both acanthocytosis and red cell Kx in heterozygous females. The mother of the original proband was heterozygous. The observations showed that some blood group antigens are important to both structure and function of cell membranes. Structural and/or functional significance of several other blood group antigens is known. For example, absence of Rh antigens (Rh null) is associated with changes in red cell shape (see <a href="/entry/111700">111700</a>) and lack of Duffy antigen (see <a href="/entry/613665">613665</a>) leads to inability of the tertian malaria parasite to penetrate red cells (see <a href="/entry/110700">110700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13860532" 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>McLeod syndrome was first described by <a href="#1" class="mim-tip-reference" title="Allen, F. H., Krabbe, S. M. R., Corcoran, P. A. <strong>A new phenotype (McLeod) in the Kell blood-group system.</strong> Vox Sang. 6: 555-560, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13860532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13860532</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1961.tb03203.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13860532">Allen et al. (1961)</a> in a Harvard dental student, Hugh McLeod. <a href="#3" class="mim-tip-reference" title="Danek, A., Rubio, J. P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W. A., Oechsner, M., Kalckreuth, W., Watt, J. M., Corbett, A. J., Hamdalla, H. H. M., Marshall, A. G., Sutton, I., Dotti, M. T., Malandrini, A., Walker, R. H., Daniels, G., Monaco, A. P. <strong>McLeod neuroacanthocytosis: genotype and phenotype.</strong> Ann. Neurol. 50: 755-764, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761473</a>] [<a href="https://doi.org/10.1002/ana.10035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761473">Danek et al. (2001)</a> demonstrated that this individual had a 13-bp deletion in exon 3 of the XK gene (<a href="#0006">314850.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13860532+11761473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The mutation in the New Zealand family that helped to clarify the X-linked pattern of inheritance (<a href="#23" class="mim-tip-reference" title="Symmans, W. A., Shepherd, C. S., Marsh, W. L., Oyen, R., Shohet, S. B., Linehan, B. J. <strong>Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.</strong> Brit. J. Haemat. 42: 575-583, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/476009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">476009</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1979.tb01170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="476009">Symmans et al., 1979</a>) was shown by <a href="#2" class="mim-tip-reference" title="Bertelson, C. J., Pogo, A. O., Chaudhuri, A., Marsh, W. L., Redman, C. M., Banerjee, D., Symmans, W. A., Simon, T., Frey, D., Kunkel, L. M. <strong>Localization of the McLeod locus (XK) within Xp21 by deletion analysis.</strong> Am. J. Hum. Genet. 42: 703-711, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3358422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3358422</a>]" pmid="3358422">Bertelson et al. (1988)</a> to be a deletion; the exact size and position of the deletion was further defined by <a href="#8" class="mim-tip-reference" title="Ho, M., Chelly, J., Carter, N., Danek, A., Crocker, P., Monaco, A. P. <strong>Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.</strong> Cell 77: 869-880, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004674</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90136-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004674">Ho et al. (1994)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=476009+8004674+3358422" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Danek, A., Rubio, J. P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W. A., Oechsner, M., Kalckreuth, W., Watt, J. M., Corbett, A. J., Hamdalla, H. H. M., Marshall, A. G., Sutton, I., Dotti, M. T., Malandrini, A., Walker, R. H., Daniels, G., Monaco, A. P. <strong>McLeod neuroacanthocytosis: genotype and phenotype.</strong> Ann. Neurol. 50: 755-764, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761473</a>] [<a href="https://doi.org/10.1002/ana.10035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761473">Danek et al. (2001)</a> analyzed the mutations and clinical findings of 22 men, aged 27 to 72 years, with McLeod neuroacanthocytosis. Fifteen different XK mutations were found, 9 of which were novel, including the 1 present in the blood donor whose name was given to this disorder. All of the mutations predicted absence or truncation of the XK protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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=314850[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">rs1602145991 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602145991;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=rs1602145991" 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=rs1602145991" 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=RCV000010418" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010418" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010418</a>
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<p>In a patient with McLeod syndrome (MCLDS; <a href="/entry/300842">300842</a>), <a href="#8" class="mim-tip-reference" title="Ho, M., Chelly, J., Carter, N., Danek, A., Crocker, P., Monaco, A. P. <strong>Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.</strong> Cell 77: 869-880, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004674</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90136-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004674">Ho et al. (1994)</a> identified a change in the invariant dinucleotide of the 5-prime donor splice site of intron 2 from GT to AT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004674" 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">rs1602158863 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602158863;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=rs1602158863" 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=rs1602158863" 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=RCV000010419" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010419" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010419</a>
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<p>In a patient with McLeod syndrome (MCLDS; <a href="/entry/300842">300842</a>), <a href="#8" class="mim-tip-reference" title="Ho, M., Chelly, J., Carter, N., Danek, A., Crocker, P., Monaco, A. P. <strong>Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.</strong> Cell 77: 869-880, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004674</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90136-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004674">Ho et al. (1994)</a> observed a change in the invariant dinucleotide at the 3-prime splice acceptor site from AG to AA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010420" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010420" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010420</a>
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<p>In a female with McLeod syndrome (MCLDS; <a href="/entry/300842">300842</a>), <a href="#9" class="mim-tip-reference" title="Ho, M. F., Chalmers, R. M., Davis, M. B., Harding, A. E., Monaco, A. P. <strong>A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis.</strong> Ann. Neurol. 39: 672-675, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619554</a>] [<a href="https://doi.org/10.1002/ana.410390518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8619554">Ho et al. (1996)</a> demonstrated a novel 1-bp deletion in exon 2 of the XK gene at codon 90, creating a frameshift that results in premature termination of translation and elimination of 80% of the predicted XK protein. The mutation was found in a 51-year-old woman who presented with cognitive impairment, chorea tics, and areflexia due to an axonal peripheral neuropathy. This woman had marked skewing of X inactivation. The authors pointed out the similarity of the clinical features in advanced cases of McLeod syndrome to those of choreoacanthocytosis (<a href="/entry/200150">200150</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8619554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 MCLEOD SYNDROME</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">rs1602159120 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602159120;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=rs1602159120" 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=rs1602159120" 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=RCV000010421" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010421" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010421</a>
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<p>In a 50-year-old Japanese man with McLeod syndrome (MCLDS; <a href="/entry/300842">300842</a>), <a href="#7" class="mim-tip-reference" title="Hanaoka, N., Yoshida, K., Nakamura, A., Furihata, K., Seo, T., Tani, Y., Takahashi, J., Ikeda, S., Hanyu, N. <strong>A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.</strong> J. Neurol. Sci. 165: 6-9, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10426139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10426139</a>] [<a href="https://doi.org/10.1016/s0022-510x(99)00028-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10426139">Hanaoka et al. (1999)</a> found deletion of a single base, T, at nucleotide 1095 of the XK gene (codon 320), which was predicted to cause a premature stop codon at amino acid 408. His 82-year-old mother was heterozygous for the mutation and had no neuromuscular symptoms and normal serum creatine kinase levels. The man had noticed slowly progressive muscular atrophy, weakness in the lower limbs, and gait disturbance since the age of 45. At the age of 26, he had been hospitalized for depression, and high levels of serum transaminase and creatine kinase were noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10426139" 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">rs28933690 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933690;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=rs28933690" 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=rs28933690" 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=RCV000010422" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010422" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010422</a>
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<p>Of 15 different mutations identified in the XK gene by <a href="#3" class="mim-tip-reference" title="Danek, A., Rubio, J. P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W. A., Oechsner, M., Kalckreuth, W., Watt, J. M., Corbett, A. J., Hamdalla, H. H. M., Marshall, A. G., Sutton, I., Dotti, M. T., Malandrini, A., Walker, R. H., Daniels, G., Monaco, A. P. <strong>McLeod neuroacanthocytosis: genotype and phenotype.</strong> Ann. Neurol. 50: 755-764, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761473</a>] [<a href="https://doi.org/10.1002/ana.10035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761473">Danek et al. (2001)</a> in 22 men with McLeod neuroacanthocytosis (MCLDS; <a href="/entry/300842">300842</a>), only one was a missense mutation: a 962T-C transition in exon 3 resulting in a cys294-to-arg (C294R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761473" 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">rs2146834690 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2146834690;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=rs2146834690" 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=rs2146834690" 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=RCV000010423" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010423" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010423</a>
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<p>In Hugh McLeod, the original propositus (<a href="#1" class="mim-tip-reference" title="Allen, F. H., Krabbe, S. M. R., Corcoran, P. A. <strong>A new phenotype (McLeod) in the Kell blood-group system.</strong> Vox Sang. 6: 555-560, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13860532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13860532</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1961.tb03203.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13860532">Allen et al., 1961</a>) for whom the 'McLeod phenotype' (MCLDS; <a href="/entry/300842">300842</a>) is named, <a href="#3" class="mim-tip-reference" title="Danek, A., Rubio, J. P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W. A., Oechsner, M., Kalckreuth, W., Watt, J. M., Corbett, A. J., Hamdalla, H. H. M., Marshall, A. G., Sutton, I., Dotti, M. T., Malandrini, A., Walker, R. H., Daniels, G., Monaco, A. P. <strong>McLeod neuroacanthocytosis: genotype and phenotype.</strong> Ann. Neurol. 50: 755-764, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761473</a>] [<a href="https://doi.org/10.1002/ana.10035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761473">Danek et al. (2001)</a> demonstrated a 13-bp deletion (1020-1033del) in the XK gene. The mutation resulted in a shift in reading frame, causing the translation machinery to terminate at a downstream, in-frame stop codon. The deletion was initiated in codon 313 and the stop codon was created at codon 336. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13860532+11761473" 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">rs104894953 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894953;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=rs104894953" 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=rs104894953" 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=RCV000010424" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010424" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010424</a>
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<p><a href="#22" class="mim-tip-reference" title="Supple, S. G., Iland, H. J., Barnett, M. H., Pollard, J. D. <strong>A spontaneous novel XK gene mutation in a patient with McLeod syndrome.</strong> Brit. J. Haemat. 115: 369-372, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703337</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03121.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703337">Supple et al. (2001)</a> discovered a novel nonsense mutation in the XK gene in a 29-year-old man with a history of elevated creatine kinase and necrotizing myopathy. Prominent red cell acanthocytosis in association with reduced Kell antigen expression was present. Investigation of the patient's XK gene revealed a novel TGG-to-TAG transition at nucleotide 1023 in exon 3 that resulted in an in-frame stop codon, trp314-to-ter (W314X), and predicted a truncated XK protein of 313 amino acids, compared with the 444 amino acids in the normal XK protein. The mutation was not found in the patient's mother or sister, indicating that it was a de novo mutation. His myopathy had initially been labeled polymyositis and treated with immunosuppressive therapy. Subsequently the diagnosis of McLeod syndrome (MCLDS; <a href="/entry/300842">300842</a>) was suggested on the basis of prominent acanthocytosis, mild compensated hemolysis, persistent elevation of creatine kinase, and excessive sweating without neuromuscular symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11703337" 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">rs104894954 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894954;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=rs104894954" 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=rs104894954" 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=RCV000010425" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010425" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010425</a>
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<p>In a family with McLeod syndrome (MCLDS; <a href="/entry/300842">300842</a>) who originated from the German-speaking part of Switzerland, <a href="#12" class="mim-tip-reference" title="Jung, H. H., Hergersberg, M., Kneifel, S., Alkadhi, H., Schiess, R., Weigell-Weber, M., Daniels, G., Kollias, S., Hess, K. <strong>McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings.</strong> Ann. Neurol. 49: 384-392, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261514</a>]" pmid="11261514">Jung et al. (2001)</a> identified a C-to-T transition at nucleotide 977 of the XK gene, resulting in a gln299-to-ter (Q299X) mutation. Among 7 affected males, 5 manifested with psychiatric disorders such as depression, bipolar disorder, or personality disorder, but only 2 presented with chorea. Positron emission tomography (PET) and magnetic resonance volumetry revealed reduced striatal 2-fluoro-2-deoxyglucose uptake and diminished volumes of the caudate nucleus and putamen that correlated with disease duration. In contrast, none of 12 female mutation carriers showed psychiatric or movement disorders. However, in the female carriers a semidominant effect of the mutation was suggested by erythrocyte and blood group mosaicism and reduced striatal 2-fluoro-2-deoxyglucose uptake without structural abnormalities. The authors suggested that patients with psychiatric signs or symptoms segregating in an X-linked manner should be examined for acanthocytosis and Kell/Kx blood group serology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11261514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Giblett1971" class="mim-tip-reference" title="Giblett, E. R., Klebanoff, S. J., Pincus, S. H., Swanson, J., Park, B. H., McCullough, J. <strong>Kell phenotypes in chronic granulomatous disease: a potential transfusion hazard.</strong> Lancet 297: 1235-1236, 1971. Note: Originally Volume I.">Giblett et al. (1971)</a>; <a href="#Marsh1981" class="mim-tip-reference" title="Marsh, W. L., Marsh, N. J., Moore, A., Symmans, W. A., Johnson, C. L., Redman, C. M. <strong>Elevated serum creatine phosphokinase in subjects with McLeod syndrome.</strong> Vox Sang. 40: 403-411, 1981.">Marsh et al. (1981)</a>; <a href="#Marsh1975" class="mim-tip-reference" title="Marsh, W. L., Oyen, R., Nichols, M. E., Allen, F. H., Jr. <strong>Chronic granulomatous disease and the Kell blood groups.</strong> Brit. J. Haemat. 29: 247-262, 1975.">Marsh et al. (1975)</a>; <a href="#Marsh1976" class="mim-tip-reference" title="Marsh, W. L., Oyen, R., Nichols, M. E. <strong>Kx antigen, the McLeod phenotype, and chronic granulomatous disease: further studies.</strong> Vox Sang. 31: 356-362, 1976.">Marsh et al. (1976)</a>; <a href="#Marsh1978" class="mim-tip-reference" title="Marsh, W. L. <strong>Linkage relationship of the Xg and Xk loci.</strong> Cytogenet. Cell Genet. 22: 531-533, 1978.">Marsh (1978)</a>; <a href="#Marsh1979" class="mim-tip-reference" title="Marsh, W. L. <strong>Personal Communication.</strong> New York, N. Y. 11/13/1979.">Marsh (1979)</a>
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[<a href="https://doi.org/10.1016/s0140-6736(71)91738-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1423-0410.2007.00949.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1975.tb01819.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000131017" target="_blank">Full Text</a>]
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Marsh1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marsh, W. L.
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<strong>Personal Communication.</strong>
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New York, N. Y. 11/13/1979.
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</p>
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<a id="21" class="mim-anchor"></a>
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<a id="Stanfield2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stanfield, G. M., Horvitz, H. R.
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<strong>The ced-8 gene controls the timing of programmed cell deaths in C. elegans.</strong>
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Molec. Cell 5: 423-433, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882128</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10882128" 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/s1097-2765(00)80437-2" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Supple2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Supple, S. G., Iland, H. J., Barnett, M. H., Pollard, J. D.
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<strong>A spontaneous novel XK gene mutation in a patient with McLeod syndrome.</strong>
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Brit. J. Haemat. 115: 369-372, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11703337" 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/10.1046/j.1365-2141.2001.03121.x" 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="23" class="mim-anchor"></a>
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<a id="Symmans1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Symmans, W. A., Shepherd, C. S., Marsh, W. L., Oyen, R., Shohet, S. B., Linehan, B. J.
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<strong>Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.</strong>
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Brit. J. Haemat. 42: 575-583, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/476009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">476009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=476009" 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/j.1365-2141.1979.tb01170.x" 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="24" class="mim-anchor"></a>
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<a id="Wimer1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wimer, B. M., Marsh, W. L., Taswell, H. F.
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<strong>Clinical characteristics of the McLeod blood group phenotype. (Abstract)</strong>
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American Society of Hematology Meeting, Boston 1976.
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</p>
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</div>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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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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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 2/22/2002
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 1/24/2002<br>Victor A. McKusick - updated : 1/15/2002<br>Victor A. McKusick - updated : 1/8/2002<br>Stylianos E. Antonarakis - updated : 6/9/2000<br>Victor A. McKusick - updated : 12/7/1999<br>Orest Hurko - updated : 4/6/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<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 : 03/13/2024
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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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ckniffin : 03/05/2024<br>carol : 02/25/2022<br>carol : 10/10/2016<br>alopez : 10/24/2011<br>alopez : 5/2/2011<br>alopez : 5/2/2011<br>alopez : 5/2/2011<br>alopez : 4/20/2011<br>alopez : 4/18/2011<br>terry : 12/17/2009<br>terry : 3/31/2009<br>carol : 3/17/2004<br>carol : 3/2/2004<br>cwells : 11/5/2003<br>terry : 8/8/2003<br>terry : 3/12/2002<br>cwells : 3/11/2002<br>cwells : 3/11/2002<br>cwells : 3/7/2002<br>terry : 2/22/2002<br>carol : 2/6/2002<br>mcapotos : 2/1/2002<br>terry : 1/29/2002<br>terry : 1/24/2002<br>alopez : 1/15/2002<br>terry : 1/15/2002<br>carol : 1/9/2002<br>terry : 1/8/2002<br>mgross : 6/9/2000<br>carol : 12/10/1999<br>mcapotos : 12/10/1999<br>mcapotos : 12/10/1999<br>terry : 12/7/1999<br>alopez : 4/29/1999<br>terry : 6/1/1998<br>terry : 4/6/1998<br>terry : 8/24/1994<br>davew : 7/25/1994<br>jason : 7/12/1994<br>warfield : 4/20/1994<br>mimadm : 4/18/1994<br>carol : 12/14/1993
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</span>
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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>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 314850
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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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KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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KELL BLOOD GROUP PRECURSOR<br />
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XK LOCUS<br />
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PRECURSOR SUBSTANCE, KELL BLOOD GROUP; KX<br />
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KELL COMPLEX, 37-KD COMPONENT
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: XK</em></strong>
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</span>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 234411007;
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</span>
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<br />
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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: Xp21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : X:37,685,791-37,732,130 </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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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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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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Xp21.1
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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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McLeod syndrome
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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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300842
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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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X-linked
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The XK gene encodes a putative membrane transporter that is expressed ubiquitously, but found mainly in nervous tissue, heart, and red blood cells. In red blood cells XK is covalently linked to Kell glycoprotein (613883) through a disulfide bond, forming a complex on the cell surface. There is a correlation between expression of Kell and XK; thus, XK levels are reduced when Kell is absent and vice versa (summary by Dubielecka et al., 2011). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ho et al. (1994) assembled a cosmid contig of 360 kb that encompassed the XK locus and, by screening DNA from patients with radiolabeled whole cosmids, detected a 50-kb deletion. Two transcription units were identified within this deletion. The mRNA expression pattern of one of them, designated XK, correlated closely with the McLeod phenotype (MCLDS; 300842). Two unrelated patients with no deletions or rearrangements detected on pulsed field gel electrophoresis and Southern blot analysis were examined for the presence of point mutations. The strategy involved direct sequence analysis of PCR products derived from genomic DNA samples that were isolated from patients' leukocytes. In 1 patient, a mutation was found in the donor splice site of intron 2, and in the second, a mutation in the acceptor splice site of intron 2. The predicted protein product of XK is composed of 444 amino acids with a calculated molecular weight of 50,913 daltons. The protein shared structural characteristics with membrane transport proteins of prokaryotes and eukaryotes. The neurologic abnormalities in McLeod syndrome correlate well with the high levels of expression of XK in the brain. Striatal degeneration with the development of chorea in McLeod syndrome can probably be explained thereby. Late-onset muscular dystrophy and cardiomyopathy also correlate well with a high expression of XK in skeletal and cardiac muscle. </p><p>Stanfield and Horvitz (2000) found that the 458-amino acid Ced8 transmembrane protein of C. elegans is weakly similar to the human XK protein. The Ced8 and XK proteins share 19% amino acid identity, have similar hydropathy plots, and both contain 10 hydrophobic predicted membrane-spanning segments. The authors showed that loss-of-function mutations in the Ced8 gene lead to the late appearance of cell corpses during embryonic development in C. elegans. Ced8 functions downstream of or in parallel to the regulatory cell death gene Ced9 and may function as a cell death effector downstream of the caspase encoded by the programmed cell death killer gene Ced3. Stanfield and Horvitz (2000) suggested that in Ced8 mutants, embryonic programmed cell death probably initiates normally but proceeds slowly. The Ced8 protein appeared to be localized to the plasma membrane. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>The XK gene contains 3 exons (Ho et al., 1994). </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Marsh (1977) showed that the XK locus, which controls synthesis of the Kell blood group 'precursor substance' (Kx), is X-linked. The XK locus is inactivated by lyonization.</p><p>The XK and Xg (314700) loci are closely linked (Densen et al., 1981). Marsh (1978) reported a total lod score of 3.426 for theta of 0.0. </p><p>Ho et al. (1992) constructed a long-range restriction map of Xp21, encompassing the gene loci for McLeod and chronic granulomatous disease (CGD; 306400). Multiple CpG islands were found clustered in a 700-kb region. Using a new marker, DXS709, they limited the McLeod syndrome region to a 150- to 380-kb segment. Within this interval, 2 CpG-rich islands that may represent candidate sites for the McLeod gene were identified. </p><p>Ho et al. (1994) identified the XK gene on chromosome Xp21.1. </p><p>XK is located close to the genes responsible for chronic granulomatous disease (CYBB; 300481) and Duchenne muscular dystrophy (DMD; 300377) on the X chromosome (summary by Jung et al., 2007). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Other Features</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>The Kell precursor substance becomes evident in persons homozygous for a 'silent' allele at the Kell locus (K0). In such cases, none of the Kell antigens can be detected but a strong Kx reaction is demonstrable with both red and white cells. Such persons are clinically and hematologically normal. The McLeod phenotype is caused by an X-linked mutation leading to lack of Kx substance (summary by Marsh, 1978).</p><p>Jung et al. (2007) stated that the KX antigen, formerly KEL15, had been regrouped into the new antigen system 019 (XK019001). </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>Variant alleles at the XK locus determine synthesis of permutations of Kx antigenicity on white and red cells. Absence of Kx antigen on red cells is associated with the McLeod phenomenon in the Kell system (see 110900), i.e., they react little or not at all with various antisera in the Kell system. (It was first discovered by Allen et al. (1961) in a blood donor named Hugh McLeod.) Absence of leukocyte Kx antigen is associated with X-linked chronic granulomatous disease (summary by Marsh, 1977). In 1970, Mr. McLeod's red cells were noted to be acanthocytic in the absence of abetalipoproteinemia. Mr. McLeod had normal white cell Kx. He did have a compensated hemolytic state (Wimer et al., 1976). Evidence for X-linkage of XK is provided by mosaicism for both acanthocytosis and red cell Kx in heterozygous females. The mother of the original proband was heterozygous. The observations showed that some blood group antigens are important to both structure and function of cell membranes. Structural and/or functional significance of several other blood group antigens is known. For example, absence of Rh antigens (Rh null) is associated with changes in red cell shape (see 111700) and lack of Duffy antigen (see 613665) leads to inability of the tertian malaria parasite to penetrate red cells (see 110700). </p><p>McLeod syndrome was first described by Allen et al. (1961) in a Harvard dental student, Hugh McLeod. Danek et al. (2001) demonstrated that this individual had a 13-bp deletion in exon 3 of the XK gene (314850.0006). </p><p>The mutation in the New Zealand family that helped to clarify the X-linked pattern of inheritance (Symmans et al., 1979) was shown by Bertelson et al. (1988) to be a deletion; the exact size and position of the deletion was further defined by Ho et al. (1994). </p><p>Danek et al. (2001) analyzed the mutations and clinical findings of 22 men, aged 27 to 72 years, with McLeod neuroacanthocytosis. Fifteen different XK mutations were found, 9 of which were novel, including the 1 present in the blood donor whose name was given to this disorder. All of the mutations predicted absence or truncation of the XK protein. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MCLEOD SYNDROME</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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XK, IVS2DS, G-A, +1
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<br />
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SNP: rs1602145991,
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ClinVar: RCV000010418
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with McLeod syndrome (MCLDS; 300842), Ho et al. (1994) identified a change in the invariant dinucleotide of the 5-prime donor splice site of intron 2 from GT to AT. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MCLEOD SYNDROME</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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XK, IVS2AS, G-A, -1
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<br />
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SNP: rs1602158863,
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ClinVar: RCV000010419
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with McLeod syndrome (MCLDS; 300842), Ho et al. (1994) observed a change in the invariant dinucleotide at the 3-prime splice acceptor site from AG to AA. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MCLEOD SYNDROME</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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XK, 1-BP DEL
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<br />
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ClinVar: RCV000010420
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a female with McLeod syndrome (MCLDS; 300842), Ho et al. (1996) demonstrated a novel 1-bp deletion in exon 2 of the XK gene at codon 90, creating a frameshift that results in premature termination of translation and elimination of 80% of the predicted XK protein. The mutation was found in a 51-year-old woman who presented with cognitive impairment, chorea tics, and areflexia due to an axonal peripheral neuropathy. This woman had marked skewing of X inactivation. The authors pointed out the similarity of the clinical features in advanced cases of McLeod syndrome to those of choreoacanthocytosis (200150). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 MCLEOD SYNDROME</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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XK, 1-BP DEL, 1095T
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<br />
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SNP: rs1602159120,
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ClinVar: RCV000010421
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 50-year-old Japanese man with McLeod syndrome (MCLDS; 300842), Hanaoka et al. (1999) found deletion of a single base, T, at nucleotide 1095 of the XK gene (codon 320), which was predicted to cause a premature stop codon at amino acid 408. His 82-year-old mother was heterozygous for the mutation and had no neuromuscular symptoms and normal serum creatine kinase levels. The man had noticed slowly progressive muscular atrophy, weakness in the lower limbs, and gait disturbance since the age of 45. At the age of 26, he had been hospitalized for depression, and high levels of serum transaminase and creatine kinase were noted. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 MCLEOD SYNDROME</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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XK, CYS294ARG
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<br />
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SNP: rs28933690,
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ClinVar: RCV000010422
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Of 15 different mutations identified in the XK gene by Danek et al. (2001) in 22 men with McLeod neuroacanthocytosis (MCLDS; 300842), only one was a missense mutation: a 962T-C transition in exon 3 resulting in a cys294-to-arg (C294R) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 MCLEOD SYNDROME</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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|
XK, 13-BP DEL
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<br />
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SNP: rs2146834690,
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ClinVar: RCV000010423
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In Hugh McLeod, the original propositus (Allen et al., 1961) for whom the 'McLeod phenotype' (MCLDS; 300842) is named, Danek et al. (2001) demonstrated a 13-bp deletion (1020-1033del) in the XK gene. The mutation resulted in a shift in reading frame, causing the translation machinery to terminate at a downstream, in-frame stop codon. The deletion was initiated in codon 313 and the stop codon was created at codon 336. </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>.0007 MCLEOD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
XK, TRP314TER
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<br />
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|
|
SNP: rs104894953,
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|
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ClinVar: RCV000010424
|
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Supple et al. (2001) discovered a novel nonsense mutation in the XK gene in a 29-year-old man with a history of elevated creatine kinase and necrotizing myopathy. Prominent red cell acanthocytosis in association with reduced Kell antigen expression was present. Investigation of the patient's XK gene revealed a novel TGG-to-TAG transition at nucleotide 1023 in exon 3 that resulted in an in-frame stop codon, trp314-to-ter (W314X), and predicted a truncated XK protein of 313 amino acids, compared with the 444 amino acids in the normal XK protein. The mutation was not found in the patient's mother or sister, indicating that it was a de novo mutation. His myopathy had initially been labeled polymyositis and treated with immunosuppressive therapy. Subsequently the diagnosis of McLeod syndrome (MCLDS; 300842) was suggested on the basis of prominent acanthocytosis, mild compensated hemolysis, persistent elevation of creatine kinase, and excessive sweating without neuromuscular symptoms. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MCLEOD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
XK, GLN299TER
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|
|
<br />
|
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|
|
SNP: rs104894954,
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|
|
ClinVar: RCV000010425
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with McLeod syndrome (MCLDS; 300842) who originated from the German-speaking part of Switzerland, Jung et al. (2001) identified a C-to-T transition at nucleotide 977 of the XK gene, resulting in a gln299-to-ter (Q299X) mutation. Among 7 affected males, 5 manifested with psychiatric disorders such as depression, bipolar disorder, or personality disorder, but only 2 presented with chorea. Positron emission tomography (PET) and magnetic resonance volumetry revealed reduced striatal 2-fluoro-2-deoxyglucose uptake and diminished volumes of the caudate nucleus and putamen that correlated with disease duration. In contrast, none of 12 female mutation carriers showed psychiatric or movement disorders. However, in the female carriers a semidominant effect of the mutation was suggested by erythrocyte and blood group mosaicism and reduced striatal 2-fluoro-2-deoxyglucose uptake without structural abnormalities. The authors suggested that patients with psychiatric signs or symptoms segregating in an X-linked manner should be examined for acanthocytosis and Kell/Kx blood group serology. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Giblett et al. (1971); Marsh et al. (1981); Marsh et al. (1975);
|
|
Marsh et al. (1976); Marsh (1978); Marsh (1979)
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Allen, F. H., Krabbe, S. M. R., Corcoran, P. A.
|
|
<strong>A new phenotype (McLeod) in the Kell blood-group system.</strong>
|
|
Vox Sang. 6: 555-560, 1961.
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[PubMed: 13860532]
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[Full Text: https://doi.org/10.1111/j.1423-0410.1961.tb03203.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Bertelson, C. J., Pogo, A. O., Chaudhuri, A., Marsh, W. L., Redman, C. M., Banerjee, D., Symmans, W. A., Simon, T., Frey, D., Kunkel, L. M.
|
|
<strong>Localization of the McLeod locus (XK) within Xp21 by deletion analysis.</strong>
|
|
Am. J. Hum. Genet. 42: 703-711, 1988.
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[PubMed: 3358422]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Danek, A., Rubio, J. P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W. A., Oechsner, M., Kalckreuth, W., Watt, J. M., Corbett, A. J., Hamdalla, H. H. M., Marshall, A. G., Sutton, I., Dotti, M. T., Malandrini, A., Walker, R. H., Daniels, G., Monaco, A. P.
|
|
<strong>McLeod neuroacanthocytosis: genotype and phenotype.</strong>
|
|
Ann. Neurol. 50: 755-764, 2001.
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[PubMed: 11761473]
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[Full Text: https://doi.org/10.1002/ana.10035]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Densen, P., Wilkinson-Kroovand, S., Mandell, G. L., Sullivan, G., Oyen, R., Marsh, W. L.
|
|
<strong>Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.</strong>
|
|
Blood 58: 34-37, 1981.
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[PubMed: 7236890]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Dubielecka, P. M., Hwynn, N., Sengun, C., Lee, S., Lomas-Francis, C., Singer, C., Fernandez, H. H., Walker, R. H.
|
|
<strong>Two McLeod patients with novel mutations in XK.</strong>
|
|
J. Neurol. Sci. 305: 160-164, 2011.
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[PubMed: 21463873]
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[Full Text: https://doi.org/10.1016/j.jns.2011.02.028]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Giblett, E. R., Klebanoff, S. J., Pincus, S. H., Swanson, J., Park, B. H., McCullough, J.
|
|
<strong>Kell phenotypes in chronic granulomatous disease: a potential transfusion hazard.</strong>
|
|
Lancet 297: 1235-1236, 1971. Note: Originally Volume I.
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|
[PubMed: 4103092]
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[Full Text: https://doi.org/10.1016/s0140-6736(71)91738-7]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Hanaoka, N., Yoshida, K., Nakamura, A., Furihata, K., Seo, T., Tani, Y., Takahashi, J., Ikeda, S., Hanyu, N.
|
|
<strong>A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.</strong>
|
|
J. Neurol. Sci. 165: 6-9, 1999.
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[PubMed: 10426139]
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[Full Text: https://doi.org/10.1016/s0022-510x(99)00028-3]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ho, M., Chelly, J., Carter, N., Danek, A., Crocker, P., Monaco, A. P.
|
|
<strong>Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.</strong>
|
|
Cell 77: 869-880, 1994.
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|
[PubMed: 8004674]
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[Full Text: https://doi.org/10.1016/0092-8674(94)90136-8]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ho, M. F., Chalmers, R. M., Davis, M. B., Harding, A. E., Monaco, A. P.
|
|
<strong>A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis.</strong>
|
|
Ann. Neurol. 39: 672-675, 1996.
|
|
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|
|
[PubMed: 8619554]
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|
[Full Text: https://doi.org/10.1002/ana.410390518]
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|
</p>
|
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</li>
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<p class="mim-text-font">
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Marsh, W. L., Marsh, N. J., Moore, A., Symmans, W. A., Johnson, C. L., Redman, C. M.
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<strong>Elevated serum creatine phosphokinase in subjects with McLeod syndrome.</strong>
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<p class="mim-text-font">
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Marsh, W. L., Oyen, R., Nichols, M. E.
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<strong>Kx antigen, the McLeod phenotype, and chronic granulomatous disease: further studies.</strong>
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Marsh, W. L.
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<strong>The Kell blood groups and their relationship to chronic granulomatous disease. In: Steane, E. A. (ed.): Cellular Antigens and Disease.</strong>
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Marsh, W. L.
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<strong>Chronic granulomatous disease, Kx antigen and the Kell blood groups. In: Brewer, G. J. (ed.): Progress in Clinical and Biological Research: The Red Cell.</strong>
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Marsh, W. L.
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<strong>Chronic granulomatous disease, the McLeod syndrome, and the Kell blood groups.</strong>
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Birth Defects Orig. Art. Ser. XIV(6A): 9-25, 1978.
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<p class="mim-text-font">
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Marsh, W. L.
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<strong>Linkage relationship of the Xg and Xk loci.</strong>
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Cytogenet. Cell Genet. 22: 531-533, 1978.
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Marsh, W. L.
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Stanfield, G. M., Horvitz, H. R.
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Supple, S. G., Iland, H. J., Barnett, M. H., Pollard, J. D.
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Symmans, W. A., Shepherd, C. S., Marsh, W. L., Oyen, R., Shohet, S. B., Linehan, B. J.
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<strong>Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.</strong>
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Wimer, B. M., Marsh, W. L., Taswell, H. F.
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<strong>Clinical characteristics of the McLeod blood group phenotype. (Abstract)</strong>
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