Mutations in pyruvate kinase

Ernest Beutler; Luciano Baronciani

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

Mutations in pyruvate kinase

Ernest Beutler, Luciano Baronciani

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	1-6
Number of pages	6
Journal	Human Mutation
Volume	7
Issue number	1
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H
Publication status	Published - 1996

Keywords

Anemia
Glucocerebrosidase
NSHA
Pyruvate kinase

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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

Cite this

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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.",

keywords = "Anemia, Glucocerebrosidase, NSHA, Pyruvate kinase",

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AU - Beutler, Ernest

AU - Baronciani, Luciano

PY - 1996

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N2 - 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.

AB - 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.

KW - Anemia

KW - Glucocerebrosidase

KW - NSHA

KW - Pyruvate kinase

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Mutations in pyruvate kinase

Abstract

Keywords

ASJC Scopus subject areas

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