Mutations in pyruvate kinase.

E Beutler; L Baronciani

doi:10.1002/(sici)1098-1004(1996)7:1<1::aid-humu1>3.0.co;2-h

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PubMed · 8664896

Mutations in pyruvate kinase.

E Beutler·L Baronciani

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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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Anemia, Hemolytic, Congenital Nonspherocytic Chromosome Mapping Female Glucosylceramidase Humans Male Mutation Polymorphism, Genetic Pyruvate Kinase Structure-Activity Relationship Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.Review

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E Beutler, L Baronciani. 1996. Mutations in pyruvate kinase.. https://doi.org/10.1002/(sici)1098-1004(1996)7%3A1%3C1%3A%3Aaid-humu1%3E3.0.co%3B2-h

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