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A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

The clinical features of the autosomal recessive disorder ataxia-telangiectasia (AT) include a progressive cerebellar ataxia, hypersensitivity to ionizing radiation, and an increased susceptibility to malignancies. Epidemiological studies have suggested that AT heterozygotes may also be at increased...

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Main Authors: Wright, J., Teraoka, S., Onengut, S., Tolun, A., Gatti, R. A., Ochs, H. D., Concannon, P.
格式: Artigo
語言:Inglês
出版: 1996
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914811/
https://ncbi.nlm.nih.gov/pubmed/8808599
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