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PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats.

Amyotrophic lateral sclerosis (ALS) is a devastating, rapidly progressive disease leading to paralysis and death. Recently, intermediate length polyglutamine (polyQ) repeats of 27-33 in ATAXIN-2 (ATXN2), encoding the ATXN2 protein, were found to increase risk for ALS. In ATXN2, polyQ expansions of ≥...

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Principais autores: Zhenming Yu, Yongqing Zhu, Alice S Chen-Plotkin, Dana Clay-Falcone, Leo McCluskey, Lauren Elman, Robert G Kalb, John Q Trojanowski, Virginia M-Y Lee, Vivianna M Van Deerlin, Aaron D Gitler, Nancy M Bonini
格式: Artigo
語言:Inglês
出版: Public Library of Science (PLoS) 2011-03-01
叢編:PLoS ONE
在線閱讀:http://europepmc.org/articles/PMC3066214?pdf=render
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