Article
Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population.
Human genetics - 1 Jul 1997
Matsumoto T, Imamura O, Yamabe Y, Kuromitsu J, Tokutake Y, Shimamoto A, Suzuki N, Satoh M, Kitao S, Ichikawa K, Kataoka H, Sugawara K, Thomas W, Mason B, Tsuchihashi Z, Drayna D, Sugawara M, Sugimoto M, Furuichi Y, Goto M
Abstract excerpt
The correlation between mutations in the Werner's syndrome (WRN) gene and the haplotypes of surrounding markers was studied in Japanese patients. We have elucidated the genomic structure of WRN helicase, and found five additional mutations, designated mutations 6-10. Mutations 4 and 6 were found...
Topics
- DNA Helicases
- Exodeoxyribonucleases
- Exons
- Genetic Markers
- Genotype
- Haplotypes
- Homozygote
- Humans
- Japan
- Mutation
- RecQ Helicases