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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376800/
https://ncbi.nlm.nih.gov/pubmed/9443866
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