Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

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 o...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1998
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376800/
https://ncbi.nlm.nih.gov/pubmed/9443866
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