Article
Gaucher disease in Spanish patients: analysis of eight mutations.
Human mutation - 1 Jan 1995
Cormand B, Vilageliu L, Burguera J M, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A
Abstract excerpt
Gaucher disease is particularly prevalent among Ashkenazi Jews; thus most studies have been reported on this ethnic group. We present the first data on Spanish patients with Gaucher disease and provide one of the first reports on a fairly well defined, large, non-Jewish population. Eight mutations were analyzed in 35 patients, with different clinical subtypes, by restriction enzyme digestion or allele-specific...
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