Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are classified as “splicing mutations,” but for almost 40% of these, their role in affecting the pre-mRNA splicing of the gene is no...

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Autors principals: Faà, Valeria, Incani, Federica, Meloni, Alessandra, Corda, Denise, Masala, Maddalena, Baffico, A. Maria, Seia, Manuela, Cao, Antonio, Rosatelli, M. Cristina
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2009
Matèries:
RNA-Mediated Regulation and Noncoding RNAs
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2781556/
https://ncbi.nlm.nih.gov/pubmed/19759008
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.032623
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