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Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2

Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To as...

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Detalhes bibliográficos
Main Authors: Fogel, Brent L., Cho, Ellen, Wahnich, Amanda, Gao, Fuying, Becherel, Olivier J., Wang, Xizhe, Fike, Francesca, Chen, Leslie, Criscuolo, Chiara, De Michele, Giuseppe, Filla, Alessandro, Collins, Abigail, Hahn, Angelika F., Gatti, Richard A., Konopka, Genevieve, Perlman, Susan, Lavin, Martin F., Geschwind, Daniel H., Coppola, Giovanni
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4140459/
https://ncbi.nlm.nih.gov/pubmed/24760770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu190
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