Allelic heterogeneity in disease-causing genes presents a substantial challenge to the
translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the …

More than 900 mutations and more than 200 different polymorphisms have now been
reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Ten …

▪ 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 …

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 …

Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as
some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal …

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 Over 1000 mutations of the cystic fibrosis transmembrane conductance
regulator gene (CFTR) that cause cystic fibrosis have been identified. We examined the …

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance
regulator gene (CFTR/ABCC7). Despite the extensive and enduring efforts of many CF …

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 …

Objective As a Mendelian disease, genetics plays an integral role in the diagnosis of cystic
fibrosis (CF). The identification of 2 disease-causing mutations in the CF transmembrane …