Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 1979 English Publisher:Springer Science and Business Media LLCJournal:Human Genetics, volume 47, pages 339-342 (issn: 0340-6717, eissn: 1432-1203,

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Authors: A, Kahn; J, Marie; J L, Vives-Corrons;

doi: 10.1007/bf00321027

pmid: 457121

Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency

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Abstract

The defective PK variant of a patient with a severe form of hemolytic anemia was characterized by its inability to undergo a normal 'proteolytic maturation.' In obligatory heterozygotes it could be proved that red cells contained different PK species, some of them sensitive and the others partially resistant to the action of trypsin.

Related Organizations

Hôpital Cochin
France
Assistance Publique -Hopitaux De Paris
France
French Institute of Health and Medical Research
France

Keywords

Erythrocytes, Genetic Carrier Screening, Pyruvate Kinase, Genetic Variation, Humans, Genes, Recessive, Trypsin, Blood Protein Electrophoresis

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