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 neurological types. We describe homozygosity for the D409H mutation within the glucocerebrosidase gene associated with...
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