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Detection of heterozygotes for galactokinase deficiency in a human population

โœ Scribed by Jary S. Mayes; Robert Guthrie

Publisher
Springer
Year
1968
Tongue
English
Weight
757 KB
Volume
2
Category
Article
ISSN
0006-2928

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Human erythrocyte pyruvate kinase defici
Human erythrocyte pyruvate kinase deficiency: The use of a kinetic study of mutant enzymes for the detection of heterozygotes
โœ E. D. Sprengers; J. Marie; A. Kahn; K. Punt; G. E. J. Staal ๐Ÿ“‚ Article ๐Ÿ“… 1978 ๐Ÿ› Springer ๐ŸŒ English โš– 524 KB

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