A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.
Article Details
- CitationCopy to clipboard
Galanello R, Loi D, Sollaino C, Dessi S, Cao A, Melis MA
A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.
Hum Mutat. 1998;12(1):72-3.
- PubMed ID
- 10627140 [ View in PubMed]
- 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.