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 des
Characterization of a new glucose-6-phosphate dehydrogenase variant: GGPD central city
β Scribed by Magdolena Csepreghy; Allen Yeilding; Michael Lilly; Kelley Hall; C. W. Scott; Josef T. Prchal
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 190 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0361-8609
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## Abstract Systematic molecular analysis of a Japanese class 1 glucoseβ6βphosphate dehydrogenase (GGPD) variant (G6PD Kobe) cONA revealed a unique nucleotide substitution (1318 C to T) in exon 11, which predicts a substitution of leucine for phenylalanine at residue 440. This substitution is locat
In vitro growing human lymphocytes (HL) and fibroblasts, isolated from glucose-6-phosphate dehydrogenase (G6PD)-deficient subjects (Mediterranean variant), show a sharp decrease in this enzymatic activity and in NADPH:NADP+ ratio. These cells are less able than controls to hydroxylate benzo(a)pyrene