Cystic fibrosis is a recessive disorder common among Caucasians. Although the disease
has been known in the 1930s, it was only in the late 1980s that the molecular mechanisms …

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 …

Cystic fibrosis is a common, fatal disorder caused by abnormalities in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene. CFTR encodes a chloride channel that …

Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial
cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one …

The present report describes several aspects of the relationship of mutations in the cystic
fibrosis (CF) transmembrane conductance regulator (CFTR) gene to phenotype expression …

Abstract Cystic fibrosis (CF)--an autosomal recessive disorder caused by mutations in CF
transmembrane conductance regulator (CFTR) and characterized by abnormal chloride …

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 …

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 …

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized …

Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-
pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into …