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 (CF) is the most common life-limiting recessive genetic disorder in
Caucasians, with an incidence of 1 in 3200 newborns (1). The disease is less common in …

Purpose: To develop a sequencing assay for the CFTR gene to identify mutations in patients
with cystic fibrosis (CF). Methods: An automated assay format was developed to sequence …

Purpose: The purpose of this study was to determine the molecular consequences of the
variant c. 3700 A> G in the cystic fibrosis transmembrane conductance regulator (CFTR) …

Classic cystic fibrosis (CF) is caused by two loss‐of‐function mutations in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene, whereas patients with nonclassic CF …

Patients develop cystic fibrosis because of a variety of homozygous recessive mutations,
including single nucleotide polymorphisms, insertions, and deletions, in the cystic fibrosis …

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 …

Cystic fibrosis (CF) is characterized as a single‐gene disorder with a simple, autosomal
recessive mode of inheritance. However, translation of cystic fibrosis transmembrane …

Six new mutations have been identified in the CFTR gene. These mutations, representing
three different categories—missense (R31L, W1098R), nonsense (E1104X), and frameshift …

We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in
350 German CF patients. A screening approach based on single-strand conformation …