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G-6PD ?ankara?. A new G-6PD variant with deficiency found in a Turkish family

Authors :
Axel Kahn
Pierre Boivin
M. L. North
J. Messer
Source :
Human Genetics. 27:247-250
Publication Year :
1975
Publisher :
Springer Science and Business Media LLC, 1975.

Abstract

A new G-6PD varient with enzyme deficiency is described in a 7-month-old Turkish boy without any hemolytic manifestation, except neonatal hyperbilirubinemia. The main characteristics of this variant were the following: Severe enzyme deficiency in erythrocytes (8% of normal), fast starch-gel-electrophoretic mobility (110% of normal), increased Ki NADPH with respect to NADP+, slightly biphasic pH curve, enzyme instability, in vivo and in vitro, decreased molecular specific activity (58% of normal).

Details

ISSN :
14321203 and 03406717
Volume :
27
Database :
OpenAIRE
Journal :
Human Genetics
Accession number :
edsair.doi.dedup.....853e0c35bfff11253816354e5d2abc01