Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 47 (3), 339-342
- https://doi.org/10.1007/bf00321027
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.This publication has 9 references indexed in Scilit:
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