The disease gene is named CFTR, which stands for cystic fibrosis transmembrane conductance regulator.
Molecules are able to activate chloride conductance in airway cell line, primary human cell cultures and most importantly from cells with CFTR mutations.
Nevertheless, mouse models of CF clearly demonstrate a range of abnormal pulmonary phenotypes as a result of the Cftr mutation.
Underlying molecular defect CF is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
The gene that, when defective, causes CF is called the CFTR gene, which stands for cystic fibrosis transmembrane conductance regulator.
