Article
Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama).
Blood cells, molecules & diseases - 1 Jan 1995
Yoshida A, Twele T W, Davé V, Beutler E
Abstract excerpt
The molecular abnormality of a phosphoglycerate kinase variant associated with severe red cell enzyme deficiency ( about 4% of normal) and episodes of hemolysis with jaundice was examined. The Michaelis constants for the substrates and co-enzymes (1.3-diphosphoglycerate, 3-phosphoglycerate, ATP a...
Topics
- Adult
- Anemia, Hemolytic, Congenital Nonspherocytic
- Base Sequence
- DNA Mutational Analysis
- Erythrocytes
- Genetic Variation
- Humans
- Kinetics
- Male
- Molecular Sequence Data
- Phosphoglycerate Kinase
- Protein Conformation
- Sequence Deletion