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SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 during pre–messenger RNA (mRNA) processing. Alth...

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Detalles Bibliográficos
Autores principales: Pagliarini, Vittoria, Pelosi, Laura, Bustamante, Maria Blaire, Nobili, Annalisa, Berardinelli, Maria Grazia, D’Amelio, Marcello, Musarò, Antonio, Sette, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602033/
https://www.ncbi.nlm.nih.gov/pubmed/26438828
http://dx.doi.org/10.1083/jcb.201502059