Nature

Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis

Cystic fibrosis (CF; MIM no. 219700) is an autosomal recessive disease caused by mutations in CF transmembrane conductance regulator (CFTR). CFTR is expressed in the apical membrane of various ...
Nature

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis

Fifty-three individuals previously characterized 10, 11 were enrolled in this study. Samples were grouped considering four genotypes: (a) CF patients homozygous for p.Phe508del (CF-F508del), n=7; (b) ...
Medical News Today

What is cystic fibrosis transmembrane conductance regulator (CFTR)?

The cystic fibrosis transmembrane conductance regulator (CFTR) is a complex protein that helps maintain fluid balance in several organs. Mutations in the CFTR protein can lead to symptoms of cystic ...