Human erythrocyte pyruvate kinase defici
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E. D. Sprengers; J. Marie; A. Kahn; K. Punt; G. E. J. Staal
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Article
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1978
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Springer
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English
โ 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