Article
Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.
Blood - 1 May 1991
Neubauer B, Lakomek M, Winkler H, Parke M, Hofferbert S, Schröter W
Abstract excerpt
The molecular alterations responsible for the characteristic enzyme abnormalities in pyruvate kinase (PK) deficiency were investigated in two unrelated children homozygous for PK deficiency. Both variant enzymes were characterized according to the recommendations of the International Committee fo...
Topics
- Anemia, Hemolytic
- Base Sequence
- Child
- Child, Preschool
- Consanguinity
- Humans
- Kinetics
- Male
- Molecular Sequence Data
- Mutation
- Phosphoenolpyruvate
- Polymerase Chain Reaction
- Pyruvate Kinase