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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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Detalles Bibliográficos
Autores principales: Yu, Zhenming, Zhu, Yongqing, Chen-Plotkin, Alice S., Clay-Falcone, Dana, McCluskey, Leo, Elman, Lauren, Kalb, Robert G., Trojanowski, John Q., Lee, Virginia M.-Y., Van Deerlin, Vivianna M., Gitler, Aaron D., Bonini, Nancy M.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3066214/
https://www.ncbi.nlm.nih.gov/pubmed/21479228
http://dx.doi.org/10.1371/journal.pone.0017951