The clinical course of patients with cystic fibrosis (CF) with functionally similar mutations in
the CF transmembrane conductance regulator gene is variable and must therefore relate to …

Lung disease is the direct cause of death in over 90% of cystic fibrosis (CF) patients. Excess
neutrophil elastase is an important determinant of pulmonary disease in CF. α 1-antitrypsin …

Background Polymorphisms in genes other than the cystic fibrosis transmembrane
conductance regulator (CFTR) gene may modify the severity of pulmonary disease in …

Abstract Background Cystic Fibrosis (CF) is a monogenic disease with complex expression
because of the action of genetic and environmental factors. We investigated whether the …

In cystic fibrosis (CF), relationships between genotype and phenotype have been shown for
pancreatic status but not for pulmonary disease. One hundred and ten adult CF patients …

More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane
regulator (CFTR) disease gene. The impact of these mutations on the protein and the wide …

Rationale Variability in pulmonary disease severity is found in patients with cystic fibrosis
(CF) who have identical mutations in the CF transmembrane conductance regulator (CFTR) …

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator
(CFTR) gene, which encodes a protein expressed in the apical membrane of exocrine …

Cystic fibrosis (CF) is a complicated disease involving many organ systems. Identification of
the cystic fibrosis transmembrane regulator (CFTR) genetic code has not only enhanced our …

Since identification of the gene responsible for cystic fibrosis (CF) in 1989, significant
progess has been made in elucidating the mutational basis for this severe, autosomal …