Over the past decade, nearly 1,000 variants have been identified in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene in classic and atypical cystic fibrosis …

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 …

Fifteen years ago the gene responsible for cystic fibrosis (CF), the most common severe
autosomal recessive disorder among Caucasians, was identified. In this chapter we …

We have identified three different point mutations in the coding region of the cystic fibrosis
transmembrane conductance regulator (CFTR) gene. Each mutation segregates with the …

Patients with cystic fibrosis (CF) manifest a multisystemic disease due to mutations in the
gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR); despite …

Cystic fibrosis is a frequent autosomal recessive disorder that is caused by the
malfunctioning of a small chloride channel, the cystic fibrosis transmembrane conductance …

The identification of the cystic fibrosis transmembrane conductance regulator gene (CFTR)
in 1989 represents a landmark accomplishment in human genetics. Since that time, there …

The concurrent developments in electrophysiology studies and the identification of the cystic
fibrosis transmembrane conductance regulator (CFTR) gene has provided a unique …

The positional cloning of the gene responsible for cystic fibrosis (CF) was the important first
step in understanding the basic defect and pathophysiology of the disease. This study aims …

Over 1900 mutations have been reported in the cystic fibrosis transmembrane conductance
regulator (CFTR), the gene defective in patients with cystic fibrosis. These mutations have …