Article
Analysis of helicase gene mutations in Japanese Werner's syndrome patients.
Human genetics - 1 Feb 1997
Goto M, Imamura O, Kuromitsu J, Matsumoto T, Yamabe Y, Tokutake Y, Suzuki N, Mason B, Drayna D, Sugawara M, Sugimoto M, Furuichi Y
Abstract excerpt
The profile of helicase gene mutations was studied in 89 Japanese Werner's syndrome (WRN) patients by examining the previously described mutations 1-4 as well as a new mutation found during this study, designated mutation 5. Of 178 chromosomes (89 patients), 89 chromosomes (50%) had mutation 4, 1...
Topics
- DNA Helicases
- DNA Mutational Analysis
- Female
- Genetic Markers
- Genotype
- Humans
- Japan
- Male
- Mutation
- Pedigree
- Werner Syndrome
