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Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

โœ 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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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+2Tโ†’A) were identified by dir