Chromosomal breakage syndromes
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James P Carney
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Article
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1999
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Elsevier Science
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English
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Immune deficiency and chromosome fragility are hallmarks of two human diseases, ataxia telangiectasia and Nijmegen breakage syndrome. The genes mutated in these diseases, ATM and NBSl, have been cloned and there has been considerable recent progress on deciphering the function of the protein product