Functional Characterization and Targeted Correction of ATM Mutations Identified in Japanese Patients with Ataxia-Telangiectasia

A recent challenge for investigators studying the progressive neurological disease ataxia-telangiectasia (A-T) is to identify mutations whose effects might be alleviated by mutation-targeted therapies. We studied ATM mutations in eight families of Japanese A-T patients (JPAT) and were able to identi...

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主要な著者: Nakamura, Kotoka, Du, Liutao, Tunuguntla, Rashmi, Fike, Francesca, Cavalieri, Simona, Morio, Tomohiro, Mizutani, Shuki, Brusco, Alfredo, Gatti, Richard A
フォーマット: Artigo
言語:Inglês
出版事項: 2011
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3261637/
https://ncbi.nlm.nih.gov/pubmed/22006793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21632
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