Article
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Human mutation - 1 Sept 2002
Filocamo Mirella, Mazzotti Raffaella, Stroppiano Marina, Seri Marco, Giona Fiorina, Parenti Giancarlo, Regis Stefano, Corsolini Fabio, Zoboli Stefania, Gatti Rosanna
Abstract excerpt
Gaucher disease (GD), the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the glucocerebrosidase gene (GBA). In this paper we report the molecular characterization of 144 unrelated Italian GD patients with the three types of the disease. The allelic frequencies of Italians are reported and the mutation profile is...
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