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Article

Next generation sequencing identifies a novel rearrangement in the HBB cluster permitting to-the-base characterization.

Human mutation - 1 Jan 2015

Shooter Claire, Rooks Helen, Thein Swee Lay, Clark Barnaby

Abstract excerpt

Genetic testing for hemoglobinopathies is required for prenatal diagnosis, understanding complex cases where multiple pathogenic variants may be present or investigating cases of unexplained anemia. Characterization of disease causing variants that range from single base changes to large rearrangements may require several different labor-intensive methodologies. Multiplex ligation probe amplification analysis is...

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Source

Identifiers

PMID: 25331561
DOI: 10.1002/humu.22707

Genes

HBB
HBG2
HBD
HBG1

Provenance

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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Next generation sequencing identifies a novel rearrangement in the HBB cluster permitting to-the-base characterization.PMID 25331561Read ↗

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Identification of two novel β-globin gene mutations HBB: exon3del, HBB: c.-81A>C.Semantic proximity Read ↗

Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation SequencingSemantic proximity Read ↗

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