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CFTRBiomolecule
autosomal recessiveDisease
Cystic fibrosisDisease
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polymeraseProtein
geneDisease
Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 750 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the most common mutation (DF508) in Brazilian patients of European origin is 47%. To determine the frequency of 4 other common CF mutations (G542X, G551D, R553X, and N1303K) in Brazilian patients of European origin, we used direct polymerase chain reaction (PCR) amplification of DNA obtained from dried blood spots on Guthrie cards. The DNA came from 247 non-DF508 chromosomes from 172 Brazilian CF patients ascertained from 5 different states of Brazil. The results show that the 4 mutations account for 17% of the non-DF508 alleles and only 9% of the total num...
We analyzed 192 cystic fibrosis (CF) alleles in three Latin American countries: Mexico, Colombia, an...
The frequencies of the ΔF508 deletion, the most common cystic fibrosis mutation in Europeans and Eur...
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilia...
Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 750 different mutations in...
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and...
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...
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) popu...
Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were anal...
Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Amo...
AbstractCystic Fibrosis (CF) is one of the most common single-gene defects in European descent popul...
Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Sahar...
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...
The restriction fragment length polymorphism (RFLP) haplotypes of cystic fibrosis (CF) alleles vary ...
We analyzed 192 cystic fibrosis (CF) alleles in three Latin American countries: Mexico, Colombia, an...
The frequencies of the ΔF508 deletion, the most common cystic fibrosis mutation in Europeans and Eur...
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilia...
Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 750 different mutations in...
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and...
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...
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) popu...
Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were anal...
Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Amo...
AbstractCystic Fibrosis (CF) is one of the most common single-gene defects in European descent popul...
Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Sahar...
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...
The restriction fragment length polymorphism (RFLP) haplotypes of cystic fibrosis (CF) alleles vary ...
We analyzed 192 cystic fibrosis (CF) alleles in three Latin American countries: Mexico, Colombia, an...
The frequencies of the ΔF508 deletion, the most common cystic fibrosis mutation in Europeans and Eur...
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilia...
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