Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.

doi:10.1023/a:1005313724361

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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 L4...

Topics

Alleles
Cells, Cultured
Fibroblasts
Gaucher Disease
Glucosylceramidase
Humans
Japan
Leukocytes
Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Prevalence

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