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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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Detalles Bibliográficos
Autores principales:	Fernandez Alanis, Eugenio, Pinotti, Mirko, Dal Mas, Andrea, Balestra, Dario, Cavallari, Nicola, Rogalska, Malgorzata E., Bernardi, Francesco, Pagani, Franco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2012
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349419/ https://www.ncbi.nlm.nih.gov/pubmed/22362925 http://dx.doi.org/10.1093/hmg/dds045

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