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G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia.

作者信息

Vaca G, Ibarra B, Romero F, Olivares N, Cantú J M, Beutler E

出版信息

Hum Genet. 1982;61(2):175-6. doi: 10.1007/BF00274214.

Abstract

This paper describes a new G-6-PD variant designated Guadalajara, which was found in a Mexican boy suffering from chronic hemolytic anemia. The red cell enzyme activity of the subject is about 14%. The mutant enzyme showed rapid electrophoretic mobility, slightly increased affinity for glucose-6-phosphate, slightly decreased affinity for NADP+, moderately elevated utilization of substrate analogues, and normal heat stability, pH curve, and inhibition by NADPH. G-6-PD Guadalajara differs from all previously reported variants and is the first variant associated with chronic hemolysis found in Mexico.

摘要

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