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Article

Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression.

Human mutation - 1 Nov 2016

Reading N Scott, Shooter Claire, Song Jihyun, Miller Robin, Agarwal Archana, Lanikova Lucie, Clark Barnaby, Thein Swee Lay, Divoky Vladimir, Prchal Josef T

Abstract excerpt

We report an infant with sickle cell disease phenotype by biochemical analysis whose β-globin gene (HBB) sequencing showed sickle cell mutation (HBBS ) heterozygosity. The proband has a unique head-to-tail duplication of the β-globin gene cluster having wild-type (HBBA ) and HBBS alleles inherited from her father; constituting her HBBS /HBBS -HBBA genotype. Further analyses revealed that proband's duplicated...

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Source

Identifiers

PMID: 27492747
DOI: 10.1002/humu.23061

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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