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Erythrocyte glutathione synthetase in 5-oxoprolinuria: Kinetic studies of the mutant enzyme and detection of heterozygotes

✍ Scribed by Agne Larsson; Rolf Zetterström; Herje Hörnell; Ursula Porath


Book ID
115821273
Publisher
Elsevier Science
Year
1976
Tongue
English
Weight
326 KB
Volume
73
Category
Article
ISSN
0009-8981

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Erythrocyte pyruvate kinase (PK) deficiency was detected in a boy of dutch origin. Immunologic, electrophoretic, and kinetic studies of the enzymes of propositus and the members of his family demonstrated that the boy was heterozygote for two different mutant PK alleles. The mutant enzyme, for which