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α+-Thalassemia Trait Caused by a Frameshift...
Journal article

α+-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT]

Abstract

We report a case of α(+)-thalassemia (α(+)-thal) trait caused by a novel frameshift mutation in exon 2 of the α2-globin gene, specifically a deletion of a single nucleotide at amino acid codon 81 [HBA2 c.244delT]. The mutation results in a premature termination of translation at codon 83.

Authors

Waye JS; Walker L; Eng B

Journal

Hemoglobin, Vol. 36, No. 2, pp. 205–207

Publisher

Taylor & Francis

Publication Date

April 1, 2012

DOI

10.3109/03630269.2012.656172

ISSN

0363-0269

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