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Article

A new insertion mutation in the beta-globin gene [codons 45/46 (+A)] resulting in a beta-thalassemia minor phenotype.

Hemoglobin - 1 Jan 2007

Cornut Gilbert, Weng Xiaoduan, Robin Louise, Lavoie Catherine, Marchand Sylvain, Soulières Denis

Abstract excerpt

The beta-globin gene of 306 newly diagnosed beta-thalassemia (thal) minor patients were sequenced. Analysis revealed that only one amongst all the identified mutations had not been previously reported. This new mutation, causing a beta(+)-thal minor phenotype, was found in a patient of Arabic origin. The insertion frameshift mutation (+A) between codons 45 and 46 [codons 45/46 (+A)] results in a premature...

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Identifiers

PMID: 17654079
DOI: 10.1080/03630260701462162

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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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