A Novel and a Previously Described Compound Heterozygous PKLR Gene Mutations Causing Pyruvate Kinase Deficiency in a Chinese Child
β Scribed by Li, Huimin; Gu, Ping; Yao, Ru-en; Wang, Jian; Fu, Qihua; Wang, Jing
- Book ID
- 127391938
- Publisher
- Informa plc
- Year
- 2014
- Tongue
- English
- Weight
- 486 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1551-3815
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27βyearβold male Chinese patient with atypical pantothenate kinaseβassociated neurodegeneration (PKAN), formerly HallervordenβSpatz syndrome. Automated DNA sequence analyses revealed compound hete
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