Add to ORKGBACKGROUND: The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been employed so far to support the role of CF modifier genes. METHODS: Patients were selected from 101 families with a total of 171 F508del-CFTR homozygous CF patients to identify CF modifying genes. A candidate gene based association study of 52 genes on 16 different chromosomes with a total of 182 genetic markers was performed. Differences in haplotype and/or diplotype distribution between case and reference CF subpopulations were analysed. RESULTS: Variants at immunologically relevant genes were associated with the manifestation of the CF basic defect (0.01<Praw<0.0...
Cystic fibrosis (CF) is caused by mutations in autosomal recessive genes that code for proteins cyst...
Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis conductance tra...
Cystic fibrosis (CF) is a multisystem disease, affecting many organs including the liver, intestines...
BACKGROUND: The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride chan...
Abstract Background F508del-CFTR, the most frequent disease-causing mutation among Caucasian cystic ...
AbstractThe variation in cystic fibrosis (CF) lung disease and development of CF related complicatio...
Cystic fibrosis (CF) is the most common and fatal autosomal recessive genetic disease in euro-descen...
The goal of this research was to better understand the genetic disease, cystic fibrosis. Symptoms an...
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation o...
Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembr...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
Since identification of the gene responsible for cystic fibrosis (CF) in 1989, significant progress ...
textabstractCystic fibrosis (CF) is an autosomal recessive disease caused by genetic lesions in the ...
Cystic fibrosis (CF) is a monogenic syndrome determined by over 2000 mutations in the CF Transmembra...
Cystic fibrosis (CF), the most common lethal single-gene disorder affecting Northern Europeans and N...
Cystic fibrosis (CF) is caused by mutations in autosomal recessive genes that code for proteins cyst...
Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis conductance tra...
Cystic fibrosis (CF) is a multisystem disease, affecting many organs including the liver, intestines...
BACKGROUND: The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride chan...
Abstract Background F508del-CFTR, the most frequent disease-causing mutation among Caucasian cystic ...
AbstractThe variation in cystic fibrosis (CF) lung disease and development of CF related complicatio...
Cystic fibrosis (CF) is the most common and fatal autosomal recessive genetic disease in euro-descen...
The goal of this research was to better understand the genetic disease, cystic fibrosis. Symptoms an...
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation o...
Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembr...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
Since identification of the gene responsible for cystic fibrosis (CF) in 1989, significant progress ...
textabstractCystic fibrosis (CF) is an autosomal recessive disease caused by genetic lesions in the ...
Cystic fibrosis (CF) is a monogenic syndrome determined by over 2000 mutations in the CF Transmembra...
Cystic fibrosis (CF), the most common lethal single-gene disorder affecting Northern Europeans and N...
Cystic fibrosis (CF) is caused by mutations in autosomal recessive genes that code for proteins cyst...
Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis conductance tra...
Cystic fibrosis (CF) is a multisystem disease, affecting many organs including the liver, intestines...