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Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

โœ Scribed by H. Ida; O.M. Rennert; H. Kawame; T. Ito; K. Maekawa; Y. Eto


Book ID
114248053
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
51 KB
Volume
47
Category
Article
ISSN
0378-3782

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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