Article
A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.
Human mutation - 1 Jan 1998
Valentin C, Birgens H, Craescu C T, Brødum-Nielsen K, Cohen-Solal M
Abstract excerpt
Phosphoglycerate kinase (PGK) is a X-linked enzyme that plays a key role in the glycolytic pathway. Twelve different variants have already been reported. We describe a new PGK variant, PGK Herlev (Asp 285-->Val), in a 69-year-old Danish patient with isolated chronic hemolysis but who had no neuro...
Topics
- Aged
- Amino Acid Substitution
- Anemia, Hemolytic
- Chronic Disease
- DNA Mutational Analysis
- Denmark
- Gene Dosage
- Genotype
- Humans
- Karyotyping
- Male
- Models, Molecular
- Mosaicism
- Phosphoglycerate Kinase
- Point Mutation
- Structure-Activity Relationship
- X Chromosome