Mutations in pyruvate kinase

Ernest Beutler, Luciano Baronciani

Research output: Contribution to journal › Article

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 languageEnglish
Pages (from-to)1-6
Number of pages6
JournalHuman Mutation
Volume7
Issue number1
DOIs
Publication statusPublished - 1996

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Pyruvate Kinase
Mutation
Congenital Hemolytic Anemia
Glucosylceramidase
Genes
Hemolytic Anemia
Pyruvate Kinase Deficiency of Red Cells

Keywords

  • Anemia
  • Glucocerebrosidase
  • NSHA
  • Pyruvate kinase

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Mutations in pyruvate kinase. / Beutler, Ernest; Baronciani, Luciano.

In: Human Mutation, Vol. 7, No. 1, 1996, p. 1-6.

Research output: Contribution to journal › Article

Beutler, E & Baronciani, L 1996, 'Mutations in pyruvate kinase', Human Mutation, vol. 7, no. 1, pp. 1-6. https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H
Beutler E, Baronciani L. Mutations in pyruvate kinase. Human Mutation. 1996;7(1):1-6. https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H
Beutler, Ernest ; Baronciani, Luciano. / Mutations in pyruvate kinase. In: Human Mutation. 1996 ; Vol. 7, No. 1. pp. 1-6.
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