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Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK sendai and PK shinshu

✍ Scribed by Dr. Kenzaburo Tani; Hisaichi Fujii; Keisuke Takahashi; Hiromi Ogura; Hitoshi Kanno; Kiyoshi Hayasaka; Kuniaki Narisawa; Tatsutoshi Nakahata; Taro Akabane; Takayuki Morisaki; Hisashi Tsutsumi; Shiro Miwa


Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
402 KB
Volume
28
Category
Article
ISSN
0361-8609

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Fifteen novel mutations in PKLR associat
✍ Richard van Wijk; Eric G. Huizinga; Annet C.W. van Wesel; Brigitte A. van Oirsch πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 284 KB

Pyruvate kinase (PK) deficiency is a rare disease but an important cause of hereditary nonspherocytic hemolytic anemia. The disease is caused by mutations in the PKLR gene and shows a marked variability in clinical expression. We report on the molecular characterization of 38 PK-deficient patients f