Article
Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?
PloS one - 1 Jan 2013
Amato Felice, Seia Manuela, Giordano Sonia, Elce Ausilia, Zarrilli Federica, Castaldo Giuseppe, Tomaiuolo Rossella
Abstract excerpt
Cystic fibrosis (CF) is the most frequent lethal genetic disorder among Caucasians. It depends on alterations of a chloride channel expressed by most epithelial cells and encoded by CFTR gene. Also using scanning techniques to analyze the whole coding regions of CFTR gene, mutations are not identified in up to 10% of CF alleles, and such figure increases in CFTR-related disorders (CFTR-RD). Other gene regions may...
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