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 …

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

Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since
the description of the major mutation of this disease in 1989, over 150 of additional …

The cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein
that is mutated in patients suffering from cystic fibrosis. Here we report the purification and …

CYSTIC fibrosis (CF) is a common lethal genetic disease that manifests itself in airway and
other epithelial cells as defective chloride ion absorption and secretion1, 2, resulting at least …

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 …

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

A cluster of 18 point mutations in exon 17b of the cystic fibrosis transmembrane conductance
regulator (CFTR) gene has been detected in patients with cystic fibrosis. These mutations …

Increasing evidence suggests heterogeneity in the molecular pathogenesis of cystic fibrosis
(CF). Mutations such as deletion of phenylalanine at position 508 (delta F508) within the …

The cystic fibrosis transmembrane conductance regulator is encoded by the gene known to
be mutated in patients with cystic fibrosis. This paper reports the cloning and sequencing of …