Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD 'LeJeune'.

doi:10.1159/000204830

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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 r...

Topics

Amino Acid Sequence
Base Sequence
DNA, Single-Stranded
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Humans
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic

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