title: Mutations in pyruvate kinase.
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.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: L
authors.initials: L
authors.lastname: Baronciani
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*; D013329:Structure-Activity Relationship
chemical_list: D011770:Pyruvate Kinase; D005962:Glucosylceramidase