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Senataxin protects the genome: Implications for neurodegeneration and other abnormalities

Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive disorder characterized by cerebellar atrophy, peripheral neuropathy, loss of Purkinje cells and elevated α-fetoprotein. AOA2 is caused by mutations in the SETX gene that codes for the high molecular weight protein senataxin. Mutat...

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Detalles Bibliográficos
Autores principales:	Lavin, Martin F., Yeo, Abrey J., Becherel, Olivier J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Landes Bioscience 2013
Materias:	Addendum
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927485/ https://www.ncbi.nlm.nih.gov/pubmed/25003001 http://dx.doi.org/10.4161/rdis.25230

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