Add to ORKGABSTRACT: With a view to assessing genotype-to-phenotype correlations in cystic fibrosis (CF), the clinical presentation of CF children from the United Arab Emirates (UAE) who were homozygous for cystic fibrosis transmembrane conductance regula-tor (CFTR) mutation S549R(T?G) was investigated. This mutation is localized in intron 11 (nucleotide binding domain 1 of the CFTR protein) and had so far been described as a private mutation only. The associations between the R549/R549 genotype and 20 outcome variables, including age at diagnosis, sweat chloride concentrations, growth percentiles, meco-nium ileus, pancreatic sufficiency, pulmonary disease, associated complications and micro-organism colonization were examined in a group of 15 CF chil...
Cystic fibrosis (CF, OMIM: #219700), caused by biallelic pathogenic variations in the cystic fibrosi...
Objective: Cystic fibrosis (CF) is a common autosomal recessive genetic disease caused by a mutation...
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulat...
Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disorder in Caucasian popu...
Cystic fibrosis is a multi-system genetic disorder caused by mutation in the cystic fibrosis conduct...
Project (M.S., Biological Sciences)--California State University, Sacramento, 2014.Cystic fibrosis (...
Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene,...
Abstract Background Although there is relatively much information about the status of cystic fibrosi...
Cystic fibrosis is the most common potentially lethal autosomal recessive, genetic disease associate...
It was generally believed that Cystic fibrosis (CF) is rare among Arabs; however, the few studies av...
Purpose of Review Cystic fibrosis (CF) is a monogenic recessive disease with multisystem involvement...
Objectives: Cystic fibrosis transmembrane conductance regulator (CFTR) mutations form distinct mutat...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
CFTR protein (cystic fibrosis trans membrane conductance regulator) is expressed in multiple epithel...
a ala ona edicin epartm Children Sweat chloride ted from the CF clinic of the Allergy and Pulmonolog...
Cystic fibrosis (CF, OMIM: #219700), caused by biallelic pathogenic variations in the cystic fibrosi...
Objective: Cystic fibrosis (CF) is a common autosomal recessive genetic disease caused by a mutation...
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulat...
Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disorder in Caucasian popu...
Cystic fibrosis is a multi-system genetic disorder caused by mutation in the cystic fibrosis conduct...
Project (M.S., Biological Sciences)--California State University, Sacramento, 2014.Cystic fibrosis (...
Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene,...
Abstract Background Although there is relatively much information about the status of cystic fibrosi...
Cystic fibrosis is the most common potentially lethal autosomal recessive, genetic disease associate...
It was generally believed that Cystic fibrosis (CF) is rare among Arabs; however, the few studies av...
Purpose of Review Cystic fibrosis (CF) is a monogenic recessive disease with multisystem involvement...
Objectives: Cystic fibrosis transmembrane conductance regulator (CFTR) mutations form distinct mutat...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
CFTR protein (cystic fibrosis trans membrane conductance regulator) is expressed in multiple epithel...
a ala ona edicin epartm Children Sweat chloride ted from the CF clinic of the Allergy and Pulmonolog...
Cystic fibrosis (CF, OMIM: #219700), caused by biallelic pathogenic variations in the cystic fibrosi...
Objective: Cystic fibrosis (CF) is a common autosomal recessive genetic disease caused by a mutation...
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulat...