A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
โ Scribed by Aki Arai; Keiko Tanaka; Takeshi Ikeuchi; Shuichi Igarashi; Hisashi Kobayashi; Tomoya Asaka; Hidetoshi Date; Masaaki Saito; Hajime Tanaka; Sari Kawasaki; Eiichiro Uyama; Hidehiro Mizusawa; Nobuyoshi Fukuhara; Shoji Tsuji
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 85 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0364-5134
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Gaucher disease (GD), caused by a deficiency of the lysosomal enzyme glucocerebrosidase (GBA), is the most common human glycolipid storage disease. The incidence of the disease is particularly high in the Ashkenazi Jewish population, with a carrier frequency of 0.068. The 1226AโG and 84GG mutations
Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase chain