1. G-6PD "ankara". a new G-6PD variant with deficiency found in a Turkish family.
- Author
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Kahn A, North ML, Messer J, and Boivin P
- Subjects
- Blood Cells enzymology, Blood Protein Electrophoresis, Electrophoresis, Starch Gel, Female, Humans, Infant, Kinetics, Male, Turkey, Genetic Variation, Glucosephosphate Dehydrogenase blood, Glucosephosphate Dehydrogenase Deficiency genetics
- Abstract
A new G-6PD varient with enzyme deficiency is described in a 7-month-old Turkish boy without any hemolytic manifestation, except neonatal hyperbilirubinemia. The main characteristics of this variant were the following: Severe enzyme deficiency in erythrocytes (8% of normal), fast starch-gel-electrophoretic mobility (110% of normal), increased Ki NADPH with respect to NADP+, slightly biphasic pH curve, enzyme instability, in vivo and in vitro, decreased molecular specific activity (58% of normal).
- Published
- 1975
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