Article
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
Journal of inherited metabolic disease - 1 Mar 1997
Ida H, Rennert O M, Kawame H, Maekawa K, Eto Y
Abstract excerpt
Utilizing PCR and PCR-SSCP analysis we investigated the prevalence of glucocerebrosidase gene mutations in 47 unrelated Japanese patients with Gaucher disease. Sixty alleles (63.8%) and 20 alleles (21.3%) were identified by analysis for common mutations and PCR-SSCP analysis, respectively. The L444P and F213I mutations were common, accounting for 41 alleles (43.6%) and 14 alleles (14.9%). R496C, D409H, S366G and...
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