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Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene
BACKGROUND: Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Over 1,800 CFTR mutations have been reported, and about 12% of mutations are believed to impair pre-mRNA splicing. Given that several synthetic, non-splice-junction synonymous s...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2012
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3440543/ https://ncbi.nlm.nih.gov/pubmed/22591852 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jcf.2012.04.009 |
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