Premium
Mutations in pyruvate kinase
Author(s) -
Beutler Ernest,
Baronciani Luciano
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1996)7:1<1::aid-humu1>3.0.co;2-h
Subject(s) - biology , pyruvate kinase , genetics , pkm2 , computational biology , enzyme , glycolysis , biochemistry
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. © 1996 Wiley‐Liss, Inc.