Article
Low frequency of the deltaAF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil.
Human biology - 1 Jun 2007
Moura Costa Fabiana Maia, Santana Maria Angélica, Lemos Antônio Carlos Moreira, Galvão-Castro Bernardo, Acosta Angelina Xavier
Abstract excerpt
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) population, with an incidence of 1:2000 to 1:8000. The deltaF508 mutation (66%) is predominant among more than 1300 different mutations of the CFTR gene. The population of the state of Bahia, in northeastern Brazil, is highly admixed (mainly African and Portuguese descendants), and so far, no study has been carried out...
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