Mutations in pyruvate kinase.
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Beutler E, Baronciani L
Mutations in pyruvate kinase.
Hum Mutat. 1996;7(1):1-6.
- PubMed ID
- 8664896 [ View in PubMed]
- 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.