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A major challenge in cystic fibrosis (CF) research is applying mutation‐specific therapy to individual patients with diverse and rare CF transmembrane conductance regulator (CFTR) genotypes. Read‐through agents are currently the most promising approach for Class I mutations that introduce premature termination codons (PTCs) into CFTR mRNA. However, variations in degradation of PTC containing transcripts...
Cystic fibrosis (CF), the most common life‐threatening genetic disease in Caucasians, is caused by ∼2,000 different mutations in the CF transmembrane conductance regulator (CFTR) gene. A significant fraction of these (∼13%) affect pre‐mRNA splicing for which novel therapies have been somewhat neglected. We have previously described the effect of the CFTR splicing mutation c.2657+5G>A in IVS16,...
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