Mutation screening of 17 Japanese patients with neuropathic Gaucher disease
โ Scribed by H. Ida; Owen M. Rennert; Takeru Ito; Kihei Maekawa; Yoshikatsu Eto; H. Kawame
- Book ID
- 106136401
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 30 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
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Communicated by William S. Sly Gaucher disease is the most prevalent sphingolipidosis, characterized by genetic deficiency of lysosomal hydrolase glucocerebrosidase, and is inherited in an autosomal recessive manner. To characterize the molecular basis of Gaucher disease in Japan, we analyzed for th
Mutations in the gene encoding for the lysosomal enzyme glucocerebrosidase (GBA) result in Gaucher disease. In this study, seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2TโA) were identified by dir