Article
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.
Human genetics - 1 Apr 1998
Ejima Y, Sasaki M S
Abstract excerpt
The ATM (A-T, mutated) gene on human chromosome 11q22.3 has recently been identified as the gene responsible for the human recessive disease ataxia-telangiectasia (A-T). In order to define the types of disease-causing ATM mutations in Japanese A-T patients as well as to look for possible mutation...
Topics
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Cell Cycle Proteins
- Cell Line
- DNA Mutational Analysis
- DNA-Binding Proteins
- Female
- Fibroblasts
- Founder Effect
- Humans
- Japan
- Male