Article
CFTR molecular analysis reveals infrequent allele frequencies in nine cystic fibrosis patients from São Paulo State, Brazil.
Human biology - 1 Jun 2003
Goloni-Bertollo Eny Maria, Rossit Andréa Regina B, Junior João Batista Salomão, Fett-Conte Agnes Cristina, Raskin Salmo
Abstract excerpt
Although cystic fibrosis (CF) is the most common autosomal recessive disorder in whites, it is thought to be relatively rare or, alternatively, underdiagnosed in Latin America. In Brazil, different groups have shown a DF508 mutation frequency ranging from 30.7% to 50.8%. Such variation may be explained by the ethnic differences observed in this country, which is genetically very heterogeneous. We describe the...
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