Abstract
Pyruvate kinase (PK) deficiency due to mutations of the PKLR gene is a common cause of hereditary nonspherocytic hemolytic anemia. Thus far, 55 different mutations have been described in patients with PK-deficient hemolytic anemia. Polymorphisms within the PKLR gene and in the tightly linked glucocerebrosidase (GBA) gene suggest that PK deficiency may represent a balanced polymorphism.
| Original language | English |
|---|---|
| Pages (from-to) | 1-6 |
| Number of pages | 6 |
| Journal | Human Mutation |
| Volume | 7 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1996 |
Keywords
- Anemia
- Glucocerebrosidase
- NSHA
- Pyruvate kinase
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)