An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

A significant proportion of disease-causing mutations affect precursor-mRNA splicing, inducing skipping of the exon from the mature transcript. Using F9 exon 5, CFTR exon 12 and SMN2 exon 7 models, we characterized natural mutations associated to exon skipping in Haemophilia B, cystic fibrosis and s...

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Main Authors: Fernandez Alanis, Eugenio, Pinotti, Mirko, Dal Mas, Andrea, Balestra, Dario, Cavallari, Nicola, Rogalska, Malgorzata E., Bernardi, Francesco, Pagani, Franco
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2012
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3349419/
https://ncbi.nlm.nih.gov/pubmed/22362925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds045
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