Article
Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.
Gene - 30 Jan 2018
Furgeri Daniela Tenório, Marson Fernando Augusto Lima, Correia Cyntia Arivabeni Araújo, Ribeiro José Dirceu, Bertuzzo Carmen Sílvia
Abstract excerpt
INTRODUCTION: Nearly 2000 mutations in the cystic fibrosis transmembrane regulator (CFTR) gene have been reported. The F508del mutation occurs in approximately 50-65% of patients with cystic fibrosis (CF). However, molecular diagnosis is not always possible. Therefore, silent polymorphisms can be used to label the mutant allele in households of patients with CF. OBJECTIVE: To verify the haplotypes of four...
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