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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...
Autores principales: | Pagliarini, Vittoria, Pelosi, Laura, Bustamante, Maria Blaire, Nobili, Annalisa, Berardinelli, Maria Grazia, D’Amelio, Marcello, Musarò, Antonio, Sette, Claudio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Rockefeller University Press
2015
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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 |
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