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

Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within
the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical …

Cystic fibrosis (CF) is a monogenic disease caused by mutations of the cystic fibrosis
transmembrane conductance regulator (CFTR) gene. The genotype-phenotype relationship …

Cystic fibrosis (CF) is characterized by remarkable variability in severity, rate of disease
progression, and organ involvement. In spite of the considerable amount of data collected …

In patients with cystic fibrosis (CF), genetic variants within and outside the CFTR locus
contribute to the variability of the disease severity. CFTR transcription is tightly regulated by …

In many respects, genetic studies in cystic fibrosis (CF) serve as a paradigm for a human
Mendelian genetic success story. From recognition of the condition as a heritable …

Background Cystic fibrosis (CF) is a recessive condition caused by variants in each CF
transmembrane conductance regulator (CFTR) allele. Clinically affected individuals without …

Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are
thought to be modulated by mutations in the cystic fibrosis transmembrane conductance …

▪ Abstract Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in the
Caucasian population, affecting about 30,000 individuals in the United States. The gene …

Identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and
its numerous variants opened the way to fantastic breakthroughs in diagnosis, research and …