Functional characterization and targeted
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Kotoka Nakamura; Liutao Du; Rashmi Tunuguntla; Francesca Fike; Simona Cavalieri;
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Article
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2011
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John Wiley and Sons
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English
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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