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