Mutations in pyruvate kinase.

Article Details

Citation

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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Pyruvate kinase PKLRP30613Details