Cystic fibrosis (CF) is an inherited disorder causing pancreatic, pulmonary, and sinus
disease in children and young adults. Abnormal viscosity of mucous secretions is a hallmark …

The large number of possible disease‐causing mutations in the 27 exons of the cystic
fibrosis transmembrane conductance regulator (CFTR) gene has severely limited direct …

Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in
Caucasians, is caused by mutations in CF transmembrane conductance regulator gene …

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene, which encodes an epithelial …

Cystic fibrosis (CF) is the most common severe recessive disease in Caucasians. The gene
responsible for the disease encodes a protein named cystic fibrosis transmembrane …

The cystic fibrosis transmembrane regulator (CFTR) gene encodes an ion channel
transporter, the CFTR protein. Since its identification in 1989, more than 1,900 sequence …

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance
regulator (CFTR) gene. We report on a novel nonsense mutation that leads to exon skipping …

Cystic fibrosis (CF) is an autosomal recessive condition that is estimated to affect w 80,000
individuals worldwide. It is the most common lifelimiting single-gene disorder among …

For inherited disorders, the interaction of three factors determines disease severity:(1) the
nature of the defect in the responsible gene,(2) the context in which the defective gene …

The cystic fibrosis (CF) gene was recently identified as a gene spanning 250 kilobases (kbp)
and coding for a 1480 amino acid protein, cystic fibrosis transmembrane conductance …