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The effect of premature termination codon mutations on CFTR mRNA abundance in h...

Clarke, LA; Awatade, NT; Felício, VM; Silva, IA; Calucho, M; Pereira, L; Azevedo, P; Cavaco, J; Barreto, C; Bertuzzo, C; Gartner, S; Beekman, J

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 by nons...

Date: 2019   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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