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Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.

Authors
Type
Published Article
Journal
Haematologica
1592-8721
Publisher
Ferrata Storti Foundation
Publication Date
Volume
90
Issue
8
Pages
1135–1136
Identifiers
PMID: 16079115
Source
Medline

Abstract

We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205C-->A in exon 10 predicts the amino acid change 402Thr-->Asn in the b-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366G-->A in exon 12 predicts the amino acid substitution 456Asp-->His in the a-helix N, at the protein surface (G6PD Figueira da Foz).

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