Article
Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.
Human mutation - 1 Jan 1993
Kawame H, Maekawa K, Eto Y
Abstract excerpt
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 the presence of the two known mutations (1448C and 754A) in the glucocerebrosidase gene of 15 patients (14 families) with Gaucher disease by...
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