Article
Cystic fibrosis: low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil.
Human biology - 1 Apr 1999
Cabello G M, Moreira A F, Horovitz D, Correia P, Santa Rosa A, Llerena J, Greg J, Grody W W, Degrave W M, Fernandes O, Cabello P H
Abstract excerpt
Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were analyzed for the 8 European CF mutations. Six homozygous and 15 heterozygous carriers of the DF508 mutation were found, corresponding to 47.7% of CF patients (allele frequency 0.3068). The G542X and G551D mutations were also observed with allele frequencies of 0.0227 and 0.0114, respectively. An analysis of the DF508...
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