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Statistical approaches for the detection of heterozygotes for biotinidase deficiency

โœ Scribed by Weissbecker, Karen A. ;Nance, Walter E. ;Eaves, Lindon J. ;Piussan, Charles ;Wolf, Barry

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
665 KB
Volume
39
Category
Article
ISSN
0148-7299

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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