Related Experiment Videos
A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online
R Galanello1, D Loi, C Sollaino
1Istituto Clinica Biologia Etá Evolutiva Universitá degli Studi di Cagliari, Italy. rgalanel@mcweb.unica.it
Human Mutation
|January 8, 2000
Abstract:
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.