Add to ORKGCystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Among the various CF mutations, p.F508del is the most frequent, accounting for two-thirds of the global CF chromosomes, although showing great variability among populations. We have studied 115 unrelated CF patients from a mixed population of Minas Gerais (Brazil). To evaluate part of the DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, blood DNA was obtained and PCR was performed using two pairs of primers that anneal to exons 10 and 24 of the CFTR gene. The PCR product was then submitted to automatic sequencing using the ABI PRISM 310 Genetic Analyzer. The p.F508del mutation was found in 50 (21.7%) of 230 un...
We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosi...
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilia...
To determine the effects that mutation of the cystic fibrosis transmembrane conductance regulator (C...
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) popu...
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...
Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were anal...
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and...
To define mutations present in 23 exons and flanking intronic sequences of the cystic fibrosis trans...
Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Sahar...
AbstractCystic Fibrosis (CF) is one of the most common single-gene defects in European descent popul...
To verify the presence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator ...
Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Sahar...
The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly var...
We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosi...
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilia...
To determine the effects that mutation of the cystic fibrosis transmembrane conductance regulator (C...
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) popu...
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...
Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were anal...
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and...
To define mutations present in 23 exons and flanking intronic sequences of the cystic fibrosis trans...
Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Sahar...
AbstractCystic Fibrosis (CF) is one of the most common single-gene defects in European descent popul...
To verify the presence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator ...
Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Sahar...
The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly var...
We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosi...
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilia...
To determine the effects that mutation of the cystic fibrosis transmembrane conductance regulator (C...