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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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Detalhes bibliográficos
Main Authors: Scott, Alexandra, Petrykowska, Hanna M., Hefferon, Timothy, Gotea, Valer, Elnitski, Laura
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha: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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