PURPOSE: To analyze the frequency of the delta F508 (deltaF508) deletion mutation in 108 unrelated cystic fibrosis patients and compare the results with the previously reported data for Brazilian patients. Cystic fibrosis is the leading cause of genetic disease in Caucasians, and the deltaF508 deletion is the most common mutation associated with the disease. METHOD: The frequency of the deltaF508 mutation was assessed by means of a polymerase chain reaction (PCR) followed by detection in 8% silver-stained polyacrylamide gels. RESULTS: Twenty-three of 108 patients (21.3%) were homozygous for the deltaF508 deletion, 50 were heterozygous (46.3%), and the remaining 35 (32.4%) were non-carriers. In terms of alleles, there were 96 mutated (96/216...
Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Amo...
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) popu...
AbstractCystic Fibrosis (CF) is one of the most common single-gene defects in European descent popul...
OBJETIVO: Analisar a freqüência da mutação delta F508 (deltaF508) em 108 pacientes não aparentados, ...
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilia...
Objective: To verify the presence of δF508 mutation in the cystic fibrosis transmembrane conductance...
OBJECTIVE: To verify the presence of ΔF508 mutation in the cystic fibrosis transmembrane conduc...
Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Sahar...
Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were anal...
OBJETIVO: Verificar a presença da mutação ΔF508 no gene cystic fibrosis transmembrane conductan...
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and...
Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 750 different mutations in...
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) popu...
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and...
OBJECTIVE: To identify the clinical, laboratory and radiographic characteristics of the cystic fibro...
Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Amo...
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) popu...
AbstractCystic Fibrosis (CF) is one of the most common single-gene defects in European descent popul...
OBJETIVO: Analisar a freqüência da mutação delta F508 (deltaF508) em 108 pacientes não aparentados, ...
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilia...
Objective: To verify the presence of δF508 mutation in the cystic fibrosis transmembrane conductance...
OBJECTIVE: To verify the presence of ΔF508 mutation in the cystic fibrosis transmembrane conduc...
Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Sahar...
Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were anal...
OBJETIVO: Verificar a presença da mutação ΔF508 no gene cystic fibrosis transmembrane conductan...
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and...
Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 750 different mutations in...
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) popu...
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and...
OBJECTIVE: To identify the clinical, laboratory and radiographic characteristics of the cystic fibro...
Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Amo...
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) popu...
AbstractCystic Fibrosis (CF) is one of the most common single-gene defects in European descent popul...