Identification of a Novel 5′ Alternative CFTR mRNA Isoform in a Patient with Nasal Polyposis and CFTR Mutations. Issue 7 (9th April 2014) - Hinzpeter, Alexandre
Abstract A novel 5' alternative CFTR transcript was identified in a 12y‐old patient presenting with isolated nasal polyposis and being heterozygous for c.2551C>T (p.Arg851*). Its characterization was made after identification of the c.‐2954G>A mutation which was shown to enhance promoter activity. The novel, presumably non‐functional, transcript could represent a novel molecular CFTR defect associated with CFTR‐related disorders.