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Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

Abstract

ATAXIA telangiectasia (AT) is an autosomal recessive defect in man showing among the clinical features1 : cerebellar ataxia, telangiectasia, IgA deficiency, an enhanced frequency of malignancy and an enhanced level of spontaneous chromosome instability2. There have also been reports of increased sensitivity to X rays after radiotherapy3–5 and increased chromosome aberrations induced by ionising radiation in leukocyte cultures from AT patients6,7. We report here cell survival experiments which indicate that the clinically observed enhanced sensitivity of AT patients to ionising radiation is manifest at the cellular level.

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TAYLOR, A., HARNDEN, D., ARLETT, C. et al. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 258, 427–429 (1975). https://doi.org/10.1038/258427a0

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