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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376800/
https://ncbi.nlm.nih.gov/pubmed/9443866
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