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Article

Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence.

British journal of haematology - 1 Jan 2004

De Angioletti Maria, Lacerra Giuseppina, Sabato Vincenzo, Carestia Clementina

Abstract excerpt

A family from the Southeast of Italy was found to have a novel beta-globin mutant, beta+45 G-->C, with the features of a silent beta-thalassaemia mutation. It was asymptomatic in two heterozygotes, but its interaction with the severe thalassaemia mutation beta-IVS-II-654 C-->T worsened the haematological and biosynthetic phenotype in two compound heterozygotes; moreover, another compound heterozygote, who was...

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Identifiers

PMID: 14687034
DOI: 10.1046/j.1365-2141.2003.04754.x

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

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