Article
Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD 'LeJeune'.
Acta haematologica - 1 Jan 1991
Beutler E, Westwood B, Kuhl W
Abstract excerpt
We report the nucleotide (nt) substitutions of four unrelated glucose-6-phosphate dehydrogenase (G6PD)-deficient males. Only the mutation of G6PD Wayne was unique. It was a nt 769 C----G substitution causing a deduced substitution of glycine for arginine at amino acid 257. This mutation is in a region in which G6PD mutations have previously been associated with chronic hemolytic anemia. The mutation of G6PD Jammu...
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