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1: Hum Mutat. 1998;12(1):72-3.Click here to read Links

A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.

Galanello R, Loi D, Sollaino C, Dessì S, Cao A, Melis MA.

Istituto Clinica Biologia Etá Evolutiva Universitá degli Studi di Cagliari, Italy. rgalanel@mcweb.unica.it

In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which predicts a Val-->Leu aminoacid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus.

PMID: 10627140 [PubMed - indexed for MEDLINE]