Background Cystic fibrosis is a life-limiting autosomal recessive disorder with a highly
variable clinical presentation. The classic form involves characteristic findings in the …

Isolation of the gene for cystic fibrosis (CF), the cystic fibrosis transmembrane conductance
regulator (CFTR), provided a basis for analyzing its molecular pathology and resulted in the …

In order to gain a better insight into the structure and function of the regulatory domain (RD)
of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, 19 RD missense …

The availability of the human genome sequence and tools for interrogating individual
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …

Purpose: To evaluate the role of complex alleles, with two or more mutations in cis position,
of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the definition of …

The cloning of the defective gene in cystic fibrosis (CFTR) is the most important step to date
toward understanding the pathogenesis of the disease and developing novel therapeutic …

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 …

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

Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis
transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a …

More than 250 mutations have been detected in the cystic fibrosis (CF) transmembrane
regulator (CFTR) gene, most of which are single point mutations or small deletions or …