G6PD Baudelocque: A New Unstable Variant Characterized in Cultured Fibroblasts
- 1 July 1974
- journal article
- Published by S. Karger AG in Enzyme
- Vol. 18 (1-2) , 48-59
- https://doi.org/10.1159/000459413
Abstract
A new deficient variant of glucose-6-phosphate dehydrogenase, G6PD Baudelocque, giving rise to severe congenital non-spherocytic hemolytic disease is described. It is characterized by fast electrophoretic mobility, extreme in vitro and in vivo lability, normal K(m) for G6P, normal utilization of analogues, and normal pH curve. Because of transfusions, most of the investigations were carried out in cultured fibroblasts derived from a skin biopsy.Keywords
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