Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency |
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| Authors: | A. Kahn Joelle Marie J. L. Vives-Corrons |
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| Affiliation: | (1) Institut de Pathologie Molecularire, INSERM U129, C.H.U. Cochin, F-75674 Paris Cedex 14, France;(2) Postgraduate Hematological School, Hospital Clinico Provincial, Barcelona II, Spain |
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| Abstract: | ![]()
Summary 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. |
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