Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.

doi:10.1002/humu.1380020302

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Article

Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.

Human mutation - 1 Jan 1993

Vulliamy T, Beutler E, Luzzatto L

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) is remarkable for its genetic diversity in humans. Many variants of G6PD have been described with wide ranging levels of enzyme activity and associated clinical symptoms. Fifty-eight different mutations have now been identified and these account for 97 nam...

Topics

Amino Acid Sequence
Base Sequence
Chromosome Mapping
DNA
Genetic Variation
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Humans
Mutation
Phenotype

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