Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan.

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Article

Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan.

Blood - 15 Jun 1997

Hirono A, Fujii H, Takano T, Chiba Y, Azuno Y, Miwa S

Abstract excerpt

We analyzed the molecular mutations of eight known Japanese glucose-6-phosphate dehydrogenase (G6PD) variants with unique biochemical properties. Three of them were caused by novel missense mutations: G6PD Musashino by 185 C-->T, G6PD Asahikawa by 695 G-->A, and G6PD Kamiube by 1387 C-->T. Predicted amino acid substitutions causing asymptomatic variants G6PD Musashino (62 Pro-->Phe) and G6PD Kamiube (463...

Topics

Anemia, Hemolytic, Congenital Nonspherocytic
Asian People
DNA Mutational Analysis
Genetic Variation
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Humans
Japan
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Structure-Activity Relationship

Source

Open in PubMed

Identifiers

PMID: 9192788

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