The glucocerebrosidase D409H mutation in Gaucher disease.

doi:10.1006/bmme.1996.0077

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Article

The glucocerebrosidase D409H mutation in Gaucher disease.

Biochemical and molecular medicine - 1 Dec 1996

Pasmanik-Chor M, Laadan S, Elroy-Stein O, Zimran A, Abrahamov A, Gatt S, Horowitz M

Abstract excerpt

Gaucher disease, resulting from the decreased activity of the lysosomal enzyme glucocerebrosidase, is the most prevalent sphingolipid storage disease. Due to considerable heterogeneity of phenotypic expression, it has been subdivided into the nonneurological type 1 disease, and types 2 and 3, the...

Topics

DNA, Complementary
Gaucher Disease
Glucosylceramidase
Humans
Mutation

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