XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Hoch NC, Hanzlikova H, Rulten SL, Tetreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD, Yoon G, Caldecott KW
Nature. 2017 Jan 5;541(7635):87-91. doi: 10.1038/nature20790. Epub 2016 Dec 21.
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