Article
[From gene to disease; ataxia telangiectasia].
Nederlands tijdschrift voor geneeskunde - 1 Mar 2003
Broeks A, van 't Veer L J, Ottenheim C, Hiel J A P, Kleijer W J, Weemaes C
Abstract excerpt
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, telangiectasia, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to cell kill by ionising radiation and abnormally resistant to inhibition of DNA synthesis by ionising radiation. The responsible gene, 'ataxia telangiectasia mutated' (ATM) plays a...
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