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Article

A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screening.

American journal of hematology - 1 Dec 2007

Aguilar-Martinez Patricia, Jourdan Eric, Brun Sophie, Cunat Séverine, Giansily-Blaizot Muriel, Pissard Serge, Schved Jean-François

Abstract excerpt

We describe a family with beta-thalassemia in which several pitfalls of genetic diagnoses were present. These include coherent family phenotypes with discrepancies in molecular findings because of nonpaternity, and a false beta-globin gene homozygous genotype due to a large deletion in the second locus. These findings underline the difficulties of family genetic studies and the need for tight relationship between...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 17665502
DOI: 10.1002/ajh.21000

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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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