Article
Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.
Blood - 15 May 1994
Lenzner C, Nürnberg P, Thiele B J, Reis A, Brabec V, Sakalova A, Jacobasch G
Abstract excerpt
We have completely sequenced the introns of the human L-type pyruvate kinase (PK) gene using the published cDNA sequence. Subsequently, DNA from 12 unrelated PK deficiency (PKD) patients of Central European origin was investigated for mutations in this gene by solid-phase sequencing. We detected 10 different mutations, 9 of which result in single amino acid alterations, whereas the tenth destroys a splice site....
Topics
- Anemia, Hemolytic, Congenital
- Base Sequence
- Humans
- Introns
- Isoenzymes
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Pyruvate Kinase