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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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Detaylı Bibliyografya
Yayımlandı:J Cell Biol
Asıl Yazarlar: Pagliarini, Vittoria, Pelosi, Laura, Bustamante, Maria Blaire, Nobili, Annalisa, Berardinelli, Maria Grazia, D’Amelio, Marcello, Musarò, Antonio, Sette, Claudio
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Rockefeller University Press 2015
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4602033/
https://ncbi.nlm.nih.gov/pubmed/26438828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1083/jcb.201502059
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