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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
Nature. 2010 Aug 26;466(7310):1069-75. doi: 10.1038/nature09320.
Nature. 2010.
PMID: 20740007
Free PMC article.
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats.
Yu Z, Zhu Y, Chen-Plotkin AS, Clay-Falcone D, McCluskey L, Elman L, Kalb RG, Trojanowski JQ, Lee VM, Van Deerlin VM, Gitler AD, Bonini NM.
Yu Z, et al.
PLoS One. 2011 Mar 29;6(3):e17951. doi: 10.1371/journal.pone.0017951.
PLoS One. 2011.
PMID: 21479228
Free PMC article.
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