[Molecular studies of Gaucher disease].

Abstract excerpt

Gaucher disease is characterized by a deficiency of glucocerebrosidase and hence the accumulation of glucocerebroside in visceral organs such as liver and spleen. Clinically, this disorder can be classified into three types according to clinical phenotype; types I, II and III. More than 50 different gene mutations have been reported previously in the world. Gene mutations in the Japanese showed that the most...

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