Article
Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency.
Annals of hematology - 1 Nov 1994
Lakomek M, Huppke P, Neubauer B, Pekrun A, Winkler H, Schröter W
Abstract excerpt
The biochemical properties of erythrocyte pyruvate kinase (PK) together with mutations found in the coding sequence of the R-PK gene in five patients with severe hemolytic anemia due to PK deficiency are described. The enzyme variants were designated PK 'Mosul' (homozygote), PK 'Bukarest', PK 'Ha...
Topics
- Adult
- Anemia, Hemolytic
- Base Sequence
- Child
- Child, Preschool
- Female
- Genetic Variation
- Heterozygote
- Homozygote
- Humans
- Male
- Molecular Sequence Data