✦ LIBER ✦

Mutations in pyruvate kinase

✍ Scribed by Ernest Beutler; Luciano Baronciani

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 488 KB
Volume: 7
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)7:1<1::aid-humu1>3.0.co;2-h

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✦ Synopsis

Couon

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 i n the tightly linked glucocerebrosidase (GBA) gene suggest that PK deficiency may represent a balanced polymorphism.

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