Back to Search
Start Over
G-6PD ?ankara?. A new G-6PD variant with deficiency found in a Turkish family
- 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).
- Subjects :
- Male
Enzyme deficiency
Turkey
Electrophoresis, Starch Gel
Glucosephosphate Dehydrogenase
Biology
In vivo
Genetics
Humans
Genetics (clinical)
chemistry.chemical_classification
Blood Cells
Genetic Variation
Infant
Blood Protein Electrophoresis
Molecular medicine
Molecular biology
In vitro
Human genetics
Kinetics
Glucosephosphate Dehydrogenase Deficiency
Enzyme
chemistry
Biochemistry
Female
Specific activity
Subjects
Details
- ISSN :
- 14321203 and 03406717
- Volume :
- 27
- Database :
- OpenAIRE
- Journal :
- Human Genetics
- Accession number :
- edsair.doi.dedup.....853e0c35bfff11253816354e5d2abc01