Article
Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.
Human genetics - 1 Jun 1995
Ida H, Iwasawa K, Kawame H, Rennert O M, Maekawa K, Eto Y
Abstract excerpt
The prevalence of seven different mutations (84GG, IVS2 + 1, 754A, 1226G, 1342C, 1448C, and 1504T) was investigated in 32 unrelated Japanese Gaucher patients of which 20 were type I, 6 were type II, and 6 were type III). These mutations constitute 95% of the mutations observed in Jewish patients with Gaucher disease and 75% of the mutations in non-Jews (European). The most frequent mutation, 1448C (L444P),...
Topics
- Alleles
- Asian People
- Gaucher Disease
- Humans
- Japan
- Jews
- Mutation
- Polymerase Chain Reaction
- Prevalence
- White People