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Review
. 1996;7(1):1-6.
doi: 10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H.

Mutations in pyruvate kinase

E Beutler  1 , L Baronciani
Affiliations
Review

Mutations in pyruvate kinase

E Beutler et al. Hum Mutat. 1996.

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.

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