2627 lines
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Entry
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- *142310 - HEMOGLOBIN--ZETA LOCUS; HBZ
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- OMIM
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<p>
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<span class="h4">*142310</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div 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 class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<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=ENSG00000130656;t=ENST00000252951" 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=3050" 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=142310" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000130656;t=ENST00000252951" 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_005332" 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_005332" 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=142310" 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=00794&isoform_id=00794_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/HBZ" 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/122335,340392,386763,1817576,4885397,14336680,20379746,48145813,90653007,119606270" 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/P02008" 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=3050" 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=ENSG00000130656;t=ENST00000252951" 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=HBZ" 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=HBZ" 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+3050" 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/HBZ" 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:3050" 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/3050" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr16&hgg_gene=ENST00000252951.3&hgg_start=152644&hgg_end=154503&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=142310[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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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=142310[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000130656" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=HBZ" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=HBZ" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HBZ&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/PA29212" 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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/gene/HGNC:4835" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0027657.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:96019" 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/HBZ#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:96019" 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/3050/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=3050" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00008996;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00008996 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00077763;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00077763 </a></div>
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<div><a href="https://zfin.org/ZDB-GENE-101028-1" 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 style="display: table-cell;">Cellular Pathways</div>
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<div><a href="https://reactome.org/content/query?q=HBZ&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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<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 class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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142310
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HEMOGLOBIN--ZETA LOCUS; HBZ
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<br />
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<em>Alternative titles; symbols</em>
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HEMOGLOBIN ZETA<br />
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5-PRIME ZETA LOCUS<br />
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HEMOGLOBIN ZETA-2, FORMERLY; HBZ2, FORMERLY
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HBZ" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HBZ</a></em></strong>
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/16/15?start=-3&limit=10&highlight=15">16p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:152644-154503&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">16:152,644-154,503</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 class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>Zeta is an early embryonic chain which is substituted for the alpha chain in Hb Portland-1. This unique hemoglobin was found in a newborn infant with multiple congenital anomalies and complex autosomal chromosomal mosaicism (<a href="#3" class="mim-tip-reference" title="Capp, G. L., Rigas, D. A., Jones, R. T. <strong>Hemoglobin Portland 1: a new human hemoglobin unique in structure.</strong> Science 157: 65-66, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6026665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6026665</a>] [<a href="https://doi.org/10.1126/science.157.3784.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6026665">Capp et al., 1967</a>). Its composition was found to be gamma(2) X(2). It was originally thought that the X-chain might be the epsilon chain whose synthesis persisted until after birth because of the chromosomal anomaly; later work indicated that the X-chain is indeed different from epsilon and therefore it is now called zeta. Hb Portland-2 is the designation for zeta(2)-beta(2) found in stillborn infants with homozygous alpha-thalassemia (<a href="#19" class="mim-tip-reference" title="Randhawa, Z. I., Jones, R. T., Lie-Injo, L. E. <strong>Separation of the tryptic peptides and cyanogen bromide fragments of the human embryonic zeta chains of hemoglobin Portland I and II by reverse phase high performance liquid chromatography.</strong> Hemoglobin 8: 463-482, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6500986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6500986</a>] [<a href="https://doi.org/10.3109/03630268408991732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6500986">Randhawa et al., 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6026665+6500986" 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="#16" class="mim-tip-reference" title="Melderis, H., Steinheider, G., Ostertag, W. <strong>Evidence for a unique kind of alpha-type globin chain in early mammalian embryos.</strong> Nature 250: 774-776, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4413329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4413329</a>] [<a href="https://doi.org/10.1038/250774a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4413329">Melderis et al. (1974)</a> presented evidence for the zeta chain being homologous with the alpha chain. The zeta chains of mice, rabbits and man showed close similarities to each other and significant similarities to the alpha chains of these species. <a href="#14" class="mim-tip-reference" title="Kamuzora, H., Lehmann, H. <strong>Human embryonic haemoglobins including a comparison by homology of the human zeta and alpha chains.</strong> Nature 256: 511-513, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1160998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1160998</a>] [<a href="https://doi.org/10.1038/256511a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1160998">Kamuzora and Lehmann (1975)</a> gave sequence data on the human zeta chain and pointed out a close homology to the alpha chain. Recombinant DNA experiments at Cambridge University provided suggestions that the zeta locus may be linked to the alpha loci (<a href="#13" class="mim-tip-reference" title="Housman, D. <strong>Personal Communication.</strong> Boston, Mass. 1979."None>Housman, 1979</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1160998+4413329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Pressley, L., Higgs, D. R., Clegg, J. B., Weatherall, D. J. <strong>Gene deletions in alpha-thalassemia prove that the 5-prime zeta locus is functional.</strong> Proc. Nat. Acad. Sci. 77: 3586-3589, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6158051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6158051</a>] [<a href="https://doi.org/10.1073/pnas.77.6.3586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6158051">Pressley et al. (1980)</a> presented the findings in 2 infants with hemoglobin Bart's hydrops fetalis syndrome (homozygous alpha-thalassemia-1) as evidence that the 5-prime zeta locus is functional. One of the infants had lost the 3-prime-zeta-1 gene but had zeta-globin in the cord blood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6158051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the mouse, <a href="#20" class="mim-tip-reference" title="Whitney, J. B., III, Russell, E. S. <strong>Linkage of genes for adult alpha-globin and embryonic alpha-like globin chains.</strong> Proc. Nat. Acad. Sci. 77: 1087-1090, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6153802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6153802</a>] [<a href="https://doi.org/10.1073/pnas.77.2.1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6153802">Whitney and Russell (1980)</a> concluded that the embryonic alpha-like gene is closely linked to the gene of adult alpha-globin. In mouse embryos heterozygous for alpha-thalassemia, they found no decrease in the proportion of hemoglobins containing the alpha chain as compared to the hemoglobin containing the alpha-like embryonic globin chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6153802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Aschauer, H., Sanguansermsri, T., Braunitzer, G. <strong>Embryonale Haemoglobine des Menschen: Die Primaerstruktur der zeta-Ketten (Human embryonic haemoglobins: the primary structure of the zeta chains).</strong> Hoppe Seylers Z. Physiol. Chem. 362: 1159-1162, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6179844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6179844</a>]" pmid="6179844">Aschauer et al. (1981)</a> found 57 amino acid differences between the zeta chain and the alpha chain. This finding indicates 'a greater phylogenetic distance' between alpha-type chains than between the beta-type chains. Several of the zeta chain replacements are at positions of structural and functional significance, particularly in relation to the Bohr effect and high oxygen affinity which characterize embryonic hemoglobins (<a href="#6" class="mim-tip-reference" title="Clegg, J. B., Gagnon, J. <strong>Structure of the zeta chain of human embryonic hemoglobin.</strong> Proc. Nat. Acad. Sci. 78: 6076-6080, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6171809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6171809</a>] [<a href="https://doi.org/10.1073/pnas.78.10.6076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6171809">Clegg and Gagnon, 1981</a>). The gene order in the HBAC (hemoglobin alpha cluster) is zeta--11.5 kb--pseudozeta--pseudoalpha--alpha-2--alpha-1. What was formerly called zeta-2, the locus at the 5-prime end of the alpha-globin cluster, is the functional gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6179844+6171809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Chung, S.-W., Wong, S. C., Clarke, B. J., Patterson, M., Walker, W. H. C., Chui, D. H. K. <strong>Human embryonic zeta-globin chains in adult patients with alpha-thalassemias.</strong> Proc. Nat. Acad. Sci. 81: 6188-6191, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6592610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6592610</a>] [<a href="https://doi.org/10.1073/pnas.81.19.6188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6592610">Chung et al. (1984)</a> concluded that deletion of 2 alpha-globin genes on the same chromosome as in alpha-thalassemia is accompanied by the continued expression of embryonic zeta-globin genes in adults. The 3-prime zeta-1 gene, a pseudogene, is highly homologous to the functional 5-prime zeta-2 gene. By genomic mapping and oligonucleotide analysis, <a href="#12" class="mim-tip-reference" title="Hill, A. V. S., Nicholls, R. D., Thein, S. L., Higgs, D. R. <strong>Recombination within the human embryonic zeta-globin locus: a common zeta-zeta chromosome produced by gene conversion of the psi-zeta gene.</strong> Cell 42: 809-819, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2996777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2996777</a>] [<a href="https://doi.org/10.1016/0092-8674(85)90277-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2996777">Hill et al. (1985)</a> found chromosomes with a zeta-2--zeta-1 rather than a zeta-2--psi-zeta-1 arrangement. Gene conversion of the psi-zeta-1 by the psi-zeta-2 gene appears to have happened. In this interchromosomal process the only identifiable inactivating mutation in the psi-zeta-1 gene was removed. The zeta-2--zeta-1 arrangement was common in all 8 populations studied representing a 'new' type of polymorphism. Stable mRNA transcripts from the converted gene were absent at 16 to 20 weeks of gestation when transcripts from the zeta-2 gene were readily detectable. Zeta-1 (HBZP), or pseudozeta, is very similar to zeta-2 but has a premature termination codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2996777+6592610" 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="#7" class="mim-tip-reference" title="Felice, A. E., Cleek, M. P., Marino, E. M., McKie, K. M., McKie, V. C., Chang, B. K., Huisman, T. H. J. <strong>Different zeta globin gene deletions among black Americans.</strong> Hum. Genet. 73: 221-224, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3015767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3015767</a>] [<a href="https://doi.org/10.1007/BF00401231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3015767">Felice et al. (1986)</a> found 4 types of chromosomes with a deletion between the human embryonic zeta- and pseudo-zeta-globin genes among 2.8% of 321 black Americans. These deletions were found in combination with alpha-globin gene deletions in trans but not in cis. No homozygotes were identified. Hematologic data on carriers of the zeta-globin gene deletions in association with hemoglobins AS, SS, and SC suggested that these deletions have no effect on the function of the adult alpha-globin genes. In eastern Polynesians, <a href="#11" class="mim-tip-reference" title="Hill, A. V. S., Gentile, B., Bonnardot, J. M., Roux, J., Weatherall, D. J., Clegg, J. B. <strong>Polynesian origins and affinities: globin gene variants in eastern Polynesia.</strong> Am. J. Hum. Genet. 40: 453-463, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2883894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2883894</a>]" pmid="2883894">Hill et al. (1987)</a> found a high frequency of both triplicated zeta-gene chromosomes and a specific alpha-thalassemia deletion. The deletion and a novel RFLP associated with a zeta-zeta-zeta chromosome occur only in Melanesians and Polynesians. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2883894+3015767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>PSEUDOGENES</em></strong></p><p>
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The Hb zeta pseudogene is about 11.5 kb to the 3-prime side of the zeta locus (<a href="#18" class="mim-tip-reference" title="Proudfoot, N. J., Shander, M. H. M., Manley, J. L., Gefter, M. L., Maniatis, T. <strong>Structure and in vitro transcription of human globin genes.</strong> Science 209: 1329-1336, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6158093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6158093</a>] [<a href="https://doi.org/10.1126/science.6158093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6158093">Proudfoot et al., 1980</a>). Actually there is a length polymorphism in the segment of DNA that separates the zeta gene from its pseudogene (<a href="#8" class="mim-tip-reference" title="Goodbourn, S. E. Y., Higgs, D. R., Clegg, J. B., Weatherall, D. J. <strong>Molecular basis of length polymorphism in the human zeta-globin gene complex.</strong> Proc. Nat. Acad. Sci. 80: 5022-5026, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6308667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6308667</a>] [<a href="https://doi.org/10.1073/pnas.80.16.5022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6308667">Goodbourn et al., 1983</a>). (The Hb zeta pseudogene, HBZP, was formerly symbolized HBZ1 and referred to as the 3-prime zeta locus or the psi-zeta locus.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6308667+6158093" 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="#15" class="mim-tip-reference" title="Leder, A., McMenamin, J., Fontaine, K., Bishop, A., Leder, P. <strong>Zeta -/- thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation.</strong> Hum. Molec. Genet. 14: 615-625, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649944</a>] [<a href="https://doi.org/10.1093/hmg/ddi058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15649944">Leder et al. (2005)</a> reported that a Hbz-null mice displayed an alpha-thalassemia-like syndrome. Embryonic survival of Hbz-null mice was variable and strongly influenced by genetic background. The authors identified 2 modifying loci on chromosomes 2 and 5 in the C57BL/6 background, which affected the penetrance of embryonic lethality. The authors observed an interesting effect on somatic recombination events in thalassemic embryos. These events occurred on multiple chromosomes in very early embryonic cells, prior to their allocation to the germline. <a href="#15" class="mim-tip-reference" title="Leder, A., McMenamin, J., Fontaine, K., Bishop, A., Leder, P. <strong>Zeta -/- thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation.</strong> Hum. Molec. Genet. 14: 615-625, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649944</a>] [<a href="https://doi.org/10.1093/hmg/ddi058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15649944">Leder et al. (2005)</a> concluded that somatic recombination events can be transmitted to subsequent generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649944" 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="#Black1976" class="mim-tip-reference" title="Black, J. A. <strong>Human zeta hemoglobin chain. (Letter)</strong> Nature 261: 348 only, 1976.">Black (1976)</a>; <a href="#Capp1970" class="mim-tip-reference" title="Capp, G. L., Rigas, D. A., Jones, R. T. <strong>Evidence for a new hemoglobin chain (zeta chain).</strong> Nature 228: 278-280, 1970.">Capp et al. (1970)</a>; <a href="#Hecht1968" class="mim-tip-reference" title="Hecht, F., Jones, R. T., Koler, R. D. <strong>Newborn infants with Hb Portland 1, an indicator of alpha-chain deficiency.</strong> Ann. Hum. Genet. 31: 215-218, 1968.">Hecht et al. (1968)</a>; <a href="#Higgs1981" class="mim-tip-reference" title="Higgs, D. R., Pressley, L., Aldridge, B., Clegg, J. B., Weatherall, D. J., Cao, A., Hadjiminas, M. G., Kattamis, C., Metaxatou-Mavromati, A., Rachmilewitz, E. A., Sophocleous, T. <strong>Genetic and molecular diversity in nondeletion Hb H disease.</strong> Proc. Nat. Acad. Sci. 78: 5833-5837, 1981.">Higgs et al.
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Aschauer, H., Sanguansermsri, T., Braunitzer, G.
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<strong>Embryonale Haemoglobine des Menschen: Die Primaerstruktur der zeta-Ketten (Human embryonic haemoglobins: the primary structure of the zeta chains).</strong>
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Hoppe Seylers Z. Physiol. Chem. 362: 1159-1162, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6179844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6179844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6179844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Black, J. A.
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<strong>Human zeta hemoglobin chain. (Letter)</strong>
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Nature 261: 348 only, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1272418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1272418</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1272418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/261348b0" target="_blank">Full Text</a>]
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Capp, G. L., Rigas, D. A., Jones, R. T.
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<strong>Hemoglobin Portland 1: a new human hemoglobin unique in structure.</strong>
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Science 157: 65-66, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6026665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6026665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6026665" 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/10.1126/science.157.3784.65" target="_blank">Full Text</a>]
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Capp, G. L., Rigas, D. A., Jones, R. T.
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<strong>Evidence for a new hemoglobin chain (zeta chain).</strong>
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Nature 228: 278-280, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5479523/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5479523</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5479523" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/228278b0" target="_blank">Full Text</a>]
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Chung, S.-W., Wong, S. C., Clarke, B. J., Patterson, M., Walker, W. H. C., Chui, D. H. K.
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<strong>Human embryonic zeta-globin chains in adult patients with alpha-thalassemias.</strong>
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Proc. Nat. Acad. Sci. 81: 6188-6191, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6592610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6592610</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6592610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.81.19.6188" target="_blank">Full Text</a>]
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Clegg, J. B., Gagnon, J.
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<strong>Structure of the zeta chain of human embryonic hemoglobin.</strong>
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Proc. Nat. Acad. Sci. 78: 6076-6080, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6171809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6171809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6171809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.78.10.6076" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Felice1986" class="mim-anchor"></a>
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<div class="">
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Felice, A. E., Cleek, M. P., Marino, E. M., McKie, K. M., McKie, V. C., Chang, B. K., Huisman, T. H. J.
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[<a href="https://doi.org/10.1007/BF00401231" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Goodbourn1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goodbourn, S. E. Y., Higgs, D. R., Clegg, J. B., Weatherall, D. J.
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<strong>Molecular basis of length polymorphism in the human zeta-globin gene complex.</strong>
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[<a href="https://doi.org/10.1073/pnas.80.16.5022" target="_blank">Full Text</a>]
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<a id="Hecht1968" class="mim-anchor"></a>
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<strong>Newborn infants with Hb Portland 1, an indicator of alpha-chain deficiency.</strong>
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[<a href="https://doi.org/10.1111/j.1469-1809.1968.tb00551.x" target="_blank">Full Text</a>]
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<a id="Higgs1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Higgs, D. R., Pressley, L., Aldridge, B., Clegg, J. B., Weatherall, D. J., Cao, A., Hadjiminas, M. G., Kattamis, C., Metaxatou-Mavromati, A., Rachmilewitz, E. A., Sophocleous, T.
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[<a href="https://doi.org/10.1073/pnas.78.9.5833" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Hill1985" class="mim-anchor"></a>
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Hill, A. V. S., Nicholls, R. D., Thein, S. L., Higgs, D. R.
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<strong>Recombination within the human embryonic zeta-globin locus: a common zeta-zeta chromosome produced by gene conversion of the psi-zeta gene.</strong>
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Cell 42: 809-819, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2996777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2996777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2996777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(85)90277-6" target="_blank">Full Text</a>]
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<a id="Housman1979" class="mim-anchor"></a>
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Housman, D.
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<a id="14" class="mim-anchor"></a>
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<a id="Kamuzora1975" class="mim-anchor"></a>
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<p class="mim-text-font">
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<strong>Human embryonic haemoglobins including a comparison by homology of the human zeta and alpha chains.</strong>
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Nature 256: 511-513, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1160998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1160998</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1160998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/256511a0" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Leder2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Leder, A., McMenamin, J., Fontaine, K., Bishop, A., Leder, P.
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<strong>Zeta -/- thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation.</strong>
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Hum. Molec. Genet. 14: 615-625, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi058" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Melderis1974" class="mim-anchor"></a>
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Melderis, H., Steinheider, G., Ostertag, W.
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<strong>Evidence for a unique kind of alpha-type globin chain in early mammalian embryos.</strong>
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Nature 250: 774-776, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4413329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4413329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4413329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/250774a0" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Pressley1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pressley, L., Higgs, D. R., Clegg, J. B., Weatherall, D. J.
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<strong>Gene deletions in alpha-thalassemia prove that the 5-prime zeta locus is functional.</strong>
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Proc. Nat. Acad. Sci. 77: 3586-3589, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6158051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6158051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6158051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.77.6.3586" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Proudfoot1980" class="mim-anchor"></a>
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<div class="">
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Proudfoot, N. J., Shander, M. H. M., Manley, J. L., Gefter, M. L., Maniatis, T.
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<strong>Structure and in vitro transcription of human globin genes.</strong>
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Science 209: 1329-1336, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6158093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6158093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6158093" 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/10.1126/science.6158093" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Randhawa1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Randhawa, Z. I., Jones, R. T., Lie-Injo, L. E.
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<strong>Separation of the tryptic peptides and cyanogen bromide fragments of the human embryonic zeta chains of hemoglobin Portland I and II by reverse phase high performance liquid chromatography.</strong>
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Hemoglobin 8: 463-482, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6500986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6500986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6500986" 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/10.3109/03630268408991732" target="_blank">Full Text</a>]
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<a id="Whitney1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Whitney, J. B., III, Russell, E. S.
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<strong>Linkage of genes for adult alpha-globin and embryonic alpha-like globin chains.</strong>
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Proc. Nat. Acad. Sci. 77: 1087-1090, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6153802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6153802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6153802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.77.2.1087" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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George E. Tiller - updated : 2/5/2008
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<span class="mim-text-font">
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Victor A. McKusick - edited : 2/21/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 05/20/2010
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wwang : 2/12/2008<br>terry : 2/5/2008<br>mark : 2/21/1997<br>mark : 2/21/1997<br>mimadm : 9/24/1994<br>carol : 4/27/1994<br>terry : 4/20/1994<br>warfield : 4/8/1994<br>supermim : 3/16/1992<br>carol : 8/30/1991
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<strong>*</strong> 142310
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HEMOGLOBIN--ZETA LOCUS; HBZ
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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HEMOGLOBIN ZETA<br />
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5-PRIME ZETA LOCUS<br />
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HEMOGLOBIN ZETA-2, FORMERLY; HBZ2, FORMERLY
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</h4>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HBZ</em></strong>
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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: 16p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:152,644-154,503 </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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>Zeta is an early embryonic chain which is substituted for the alpha chain in Hb Portland-1. This unique hemoglobin was found in a newborn infant with multiple congenital anomalies and complex autosomal chromosomal mosaicism (Capp et al., 1967). Its composition was found to be gamma(2) X(2). It was originally thought that the X-chain might be the epsilon chain whose synthesis persisted until after birth because of the chromosomal anomaly; later work indicated that the X-chain is indeed different from epsilon and therefore it is now called zeta. Hb Portland-2 is the designation for zeta(2)-beta(2) found in stillborn infants with homozygous alpha-thalassemia (Randhawa et al., 1984). </p><p>Melderis et al. (1974) presented evidence for the zeta chain being homologous with the alpha chain. The zeta chains of mice, rabbits and man showed close similarities to each other and significant similarities to the alpha chains of these species. Kamuzora and Lehmann (1975) gave sequence data on the human zeta chain and pointed out a close homology to the alpha chain. Recombinant DNA experiments at Cambridge University provided suggestions that the zeta locus may be linked to the alpha loci (Housman, 1979). </p><p>Pressley et al. (1980) presented the findings in 2 infants with hemoglobin Bart's hydrops fetalis syndrome (homozygous alpha-thalassemia-1) as evidence that the 5-prime zeta locus is functional. One of the infants had lost the 3-prime-zeta-1 gene but had zeta-globin in the cord blood. </p><p>In the mouse, Whitney and Russell (1980) concluded that the embryonic alpha-like gene is closely linked to the gene of adult alpha-globin. In mouse embryos heterozygous for alpha-thalassemia, they found no decrease in the proportion of hemoglobins containing the alpha chain as compared to the hemoglobin containing the alpha-like embryonic globin chain. </p><p>Aschauer et al. (1981) found 57 amino acid differences between the zeta chain and the alpha chain. This finding indicates 'a greater phylogenetic distance' between alpha-type chains than between the beta-type chains. Several of the zeta chain replacements are at positions of structural and functional significance, particularly in relation to the Bohr effect and high oxygen affinity which characterize embryonic hemoglobins (Clegg and Gagnon, 1981). The gene order in the HBAC (hemoglobin alpha cluster) is zeta--11.5 kb--pseudozeta--pseudoalpha--alpha-2--alpha-1. What was formerly called zeta-2, the locus at the 5-prime end of the alpha-globin cluster, is the functional gene. </p><p>Chung et al. (1984) concluded that deletion of 2 alpha-globin genes on the same chromosome as in alpha-thalassemia is accompanied by the continued expression of embryonic zeta-globin genes in adults. The 3-prime zeta-1 gene, a pseudogene, is highly homologous to the functional 5-prime zeta-2 gene. By genomic mapping and oligonucleotide analysis, Hill et al. (1985) found chromosomes with a zeta-2--zeta-1 rather than a zeta-2--psi-zeta-1 arrangement. Gene conversion of the psi-zeta-1 by the psi-zeta-2 gene appears to have happened. In this interchromosomal process the only identifiable inactivating mutation in the psi-zeta-1 gene was removed. The zeta-2--zeta-1 arrangement was common in all 8 populations studied representing a 'new' type of polymorphism. Stable mRNA transcripts from the converted gene were absent at 16 to 20 weeks of gestation when transcripts from the zeta-2 gene were readily detectable. Zeta-1 (HBZP), or pseudozeta, is very similar to zeta-2 but has a premature termination codon. </p><p>Felice et al. (1986) found 4 types of chromosomes with a deletion between the human embryonic zeta- and pseudo-zeta-globin genes among 2.8% of 321 black Americans. These deletions were found in combination with alpha-globin gene deletions in trans but not in cis. No homozygotes were identified. Hematologic data on carriers of the zeta-globin gene deletions in association with hemoglobins AS, SS, and SC suggested that these deletions have no effect on the function of the adult alpha-globin genes. In eastern Polynesians, Hill et al. (1987) found a high frequency of both triplicated zeta-gene chromosomes and a specific alpha-thalassemia deletion. The deletion and a novel RFLP associated with a zeta-zeta-zeta chromosome occur only in Melanesians and Polynesians. </p><p><strong><em>PSEUDOGENES</em></strong></p><p>
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The Hb zeta pseudogene is about 11.5 kb to the 3-prime side of the zeta locus (Proudfoot et al., 1980). Actually there is a length polymorphism in the segment of DNA that separates the zeta gene from its pseudogene (Goodbourn et al., 1983). (The Hb zeta pseudogene, HBZP, was formerly symbolized HBZ1 and referred to as the 3-prime zeta locus or the psi-zeta locus.) </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Leder et al. (2005) reported that a Hbz-null mice displayed an alpha-thalassemia-like syndrome. Embryonic survival of Hbz-null mice was variable and strongly influenced by genetic background. The authors identified 2 modifying loci on chromosomes 2 and 5 in the C57BL/6 background, which affected the penetrance of embryonic lethality. The authors observed an interesting effect on somatic recombination events in thalassemic embryos. These events occurred on multiple chromosomes in very early embryonic cells, prior to their allocation to the germline. Leder et al. (2005) concluded that somatic recombination events can be transmitted to subsequent generations. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Black (1976); Capp et al. (1970); Hecht et al. (1968); Higgs et al.
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(1981)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aschauer, H., Sanguansermsri, T., Braunitzer, G.
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<strong>Embryonale Haemoglobine des Menschen: Die Primaerstruktur der zeta-Ketten (Human embryonic haemoglobins: the primary structure of the zeta chains).</strong>
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Hoppe Seylers Z. Physiol. Chem. 362: 1159-1162, 1981.
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[PubMed: 6179844]
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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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Black, J. A.
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<strong>Human zeta hemoglobin chain. (Letter)</strong>
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Nature 261: 348 only, 1976.
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[PubMed: 1272418]
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[Full Text: https://doi.org/10.1038/261348b0]
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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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Capp, G. L., Rigas, D. A., Jones, R. T.
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<strong>Hemoglobin Portland 1: a new human hemoglobin unique in structure.</strong>
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Science 157: 65-66, 1967.
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[PubMed: 6026665]
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[Full Text: https://doi.org/10.1126/science.157.3784.65]
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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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Capp, G. L., Rigas, D. A., Jones, R. T.
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<strong>Evidence for a new hemoglobin chain (zeta chain).</strong>
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Nature 228: 278-280, 1970.
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[PubMed: 5479523]
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[Full Text: https://doi.org/10.1038/228278b0]
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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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Chung, S.-W., Wong, S. C., Clarke, B. J., Patterson, M., Walker, W. H. C., Chui, D. H. K.
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<strong>Human embryonic zeta-globin chains in adult patients with alpha-thalassemias.</strong>
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Proc. Nat. Acad. Sci. 81: 6188-6191, 1984.
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[PubMed: 6592610]
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[Full Text: https://doi.org/10.1073/pnas.81.19.6188]
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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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Clegg, J. B., Gagnon, J.
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<strong>Structure of the zeta chain of human embryonic hemoglobin.</strong>
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Proc. Nat. Acad. Sci. 78: 6076-6080, 1981.
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[PubMed: 6171809]
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[Full Text: https://doi.org/10.1073/pnas.78.10.6076]
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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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Felice, A. E., Cleek, M. P., Marino, E. M., McKie, K. M., McKie, V. C., Chang, B. K., Huisman, T. H. J.
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<strong>Different zeta globin gene deletions among black Americans.</strong>
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Hum. Genet. 73: 221-224, 1986.
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[PubMed: 3015767]
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[Full Text: https://doi.org/10.1007/BF00401231]
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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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Goodbourn, S. E. Y., Higgs, D. R., Clegg, J. B., Weatherall, D. J.
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<strong>Molecular basis of length polymorphism in the human zeta-globin gene complex.</strong>
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Proc. Nat. Acad. Sci. 80: 5022-5026, 1983.
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[PubMed: 6308667]
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[Full Text: https://doi.org/10.1073/pnas.80.16.5022]
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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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Hecht, F., Jones, R. T., Koler, R. D.
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<strong>Newborn infants with Hb Portland 1, an indicator of alpha-chain deficiency.</strong>
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Ann. Hum. Genet. 31: 215-218, 1968.
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[PubMed: 5648744]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1968.tb00551.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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Higgs, D. R., Pressley, L., Aldridge, B., Clegg, J. B., Weatherall, D. J., Cao, A., Hadjiminas, M. G., Kattamis, C., Metaxatou-Mavromati, A., Rachmilewitz, E. A., Sophocleous, T.
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<strong>Genetic and molecular diversity in nondeletion Hb H disease.</strong>
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Proc. Nat. Acad. Sci. 78: 5833-5837, 1981.
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[PubMed: 6272319]
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[Full Text: https://doi.org/10.1073/pnas.78.9.5833]
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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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Hill, A. V. S., Gentile, B., Bonnardot, J. M., Roux, J., Weatherall, D. J., Clegg, J. B.
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<strong>Polynesian origins and affinities: globin gene variants in eastern Polynesia.</strong>
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Am. J. Hum. Genet. 40: 453-463, 1987.
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[PubMed: 2883894]
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</li>
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<li>
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<p class="mim-text-font">
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Hill, A. V. S., Nicholls, R. D., Thein, S. L., Higgs, D. R.
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<strong>Recombination within the human embryonic zeta-globin locus: a common zeta-zeta chromosome produced by gene conversion of the psi-zeta gene.</strong>
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Cell 42: 809-819, 1985.
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[PubMed: 2996777]
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[Full Text: https://doi.org/10.1016/0092-8674(85)90277-6]
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<li>
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<p class="mim-text-font">
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Housman, D.
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<strong>Personal Communication.</strong>
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Boston, Mass. 1979.
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<li>
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<p class="mim-text-font">
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Kamuzora, H., Lehmann, H.
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<strong>Human embryonic haemoglobins including a comparison by homology of the human zeta and alpha chains.</strong>
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Nature 256: 511-513, 1975.
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[PubMed: 1160998]
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[Full Text: https://doi.org/10.1038/256511a0]
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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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Leder, A., McMenamin, J., Fontaine, K., Bishop, A., Leder, P.
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<strong>Zeta -/- thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation.</strong>
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Hum. Molec. Genet. 14: 615-625, 2005.
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[PubMed: 15649944]
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[Full Text: https://doi.org/10.1093/hmg/ddi058]
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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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Melderis, H., Steinheider, G., Ostertag, W.
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<strong>Evidence for a unique kind of alpha-type globin chain in early mammalian embryos.</strong>
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Nature 250: 774-776, 1974.
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[PubMed: 4413329]
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[Full Text: https://doi.org/10.1038/250774a0]
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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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Pressley, L., Higgs, D. R., Clegg, J. B., Weatherall, D. J.
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<strong>Gene deletions in alpha-thalassemia prove that the 5-prime zeta locus is functional.</strong>
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Proc. Nat. Acad. Sci. 77: 3586-3589, 1980.
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[PubMed: 6158051]
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[Full Text: https://doi.org/10.1073/pnas.77.6.3586]
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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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Proudfoot, N. J., Shander, M. H. M., Manley, J. L., Gefter, M. L., Maniatis, T.
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<strong>Structure and in vitro transcription of human globin genes.</strong>
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Science 209: 1329-1336, 1980.
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[PubMed: 6158093]
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[Full Text: https://doi.org/10.1126/science.6158093]
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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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Randhawa, Z. I., Jones, R. T., Lie-Injo, L. E.
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<strong>Separation of the tryptic peptides and cyanogen bromide fragments of the human embryonic zeta chains of hemoglobin Portland I and II by reverse phase high performance liquid chromatography.</strong>
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Hemoglobin 8: 463-482, 1984.
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[PubMed: 6500986]
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[Full Text: https://doi.org/10.3109/03630268408991732]
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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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Whitney, J. B., III, Russell, E. S.
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<strong>Linkage of genes for adult alpha-globin and embryonic alpha-like globin chains.</strong>
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Proc. Nat. Acad. Sci. 77: 1087-1090, 1980.
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[PubMed: 6153802]
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[Full Text: https://doi.org/10.1073/pnas.77.2.1087]
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div 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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George E. Tiller - updated : 2/5/2008<br>Victor A. McKusick - edited : 2/21/1997
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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 class="text-nowrap mim-text-font">
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 05/20/2010<br>wwang : 2/12/2008<br>terry : 2/5/2008<br>mark : 2/21/1997<br>mark : 2/21/1997<br>mimadm : 9/24/1994<br>carol : 4/27/1994<br>terry : 4/20/1994<br>warfield : 4/8/1994<br>supermim : 3/16/1992<br>carol : 8/30/1991
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