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

Authors :
Kahn A
North ML
Messer J
Boivin P
Source :
Humangenetik [Humangenetik] 1975; Vol. 27 (3), pp. 247-50.
Publication Year :
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

Language :
English
ISSN :
0018-7348
Volume :
27
Issue :
3
Database :
MEDLINE
Journal :
Humangenetik
Publication Type :
Academic Journal
Accession number :
1150245
Full Text :
https://doi.org/10.1007/BF00278353