Clinical presentation and basic defect of the CFTR genotype p.Phe508del / p.Arg117His in a mother and her monozygous twin daughters
Nasal Potential Difference in suspected Cystic Fibrosis patients with 5T: A step towards better characterization of a CFTR variant with varying clinical consequences
Eluforsen: a potential new treatment option for people with cystic fibrosis (CF) due to the F508del gene mutation?
Changes of CFTR functional measurements and clinical improvements in Cystic Fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor