Article
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
American journal of human genetics - 1 Jan 1998
Telatar M, Teraoka S, Wang Z, Chun H H, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale A L, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti R A
Abstract excerpt
To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases, such as breast cancer, we have attempted to define the most common mutations and their frequencies in ataxia-telangiectasia (A-T) homozygotes from 10 ethnic populations. Both genomic mutations and their effects on cDNA were characterized. Protein-truncation testing of the entire ATM cDNA detected 92 (66%) truncating mutations...
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