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An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy
Here, we report a long-distance interaction (LDI) as a critical regulator of alternative splicing of Survival Motor Neuron 2 (SMN2) exon 7, skipping of which is linked to spinal muscular atrophy (SMA), a leading genetic disease of children and infants. We show that this LDI is linked to a unique int...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783185/ https://www.ncbi.nlm.nih.gov/pubmed/23861442 http://dx.doi.org/10.1093/nar/gkt609 |