Article
Expression cloning of multiple human cDNAs that complement the phenotypic defects of ataxia-telangiectasia group D fibroblasts.
American journal of human genetics - 1 Dec 1993
Meyn M S, Lu-Kuo J M, Herzing L B
Abstract excerpt
Ataxia-telangiectasia (A-T) is an inherited human disease of unknown etiology associated with neurologic degeneration, immune dysfunction, cancer risk, and genetic instability. A-T cells are sensitive to ionizing radiation and radiomimetic drugs, offering the possibility of cloning A-T genes by phenotypic complementation. We have used this sensitivity to isolate the first human cDNAs reported to complement A-T...
Topics
- Ataxia Telangiectasia
- Blotting, Northern
- Blotting, Southern
- Cell Line, Transformed
- Cell Survival
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Cloning, Molecular
- DNA
- Fibroblasts
- Gene Library