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Article

Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype.

Journal of human genetics - 1 Oct 2014

Nieto Jorge M, Villegas Ana, De La Fuente-Gonzalo Felix, González Fernando A, Ropero Paloma

Abstract excerpt

The locus control region (LCR) is a genetic region that regulates the expression of the β-globin locus (HBB locus). This region is composed of several DNase I hypersensitive sites (HSs) in which the regulatory functions of the LCR may reside. To date, some individuals bearing deletions of several HSs or even the complete LCR have been described. Although the globin genes of the HBB locus are intact, most of these...

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Identifiers

PMID: 25186056
DOI: 10.1038/jhg.2014.76

Genes

HBB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype.PMID 25186056Read ↗

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