Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis

OBJECTIVE: To determine the relevance of screening for the F508del mutation of the cystic fibrosis transmembrane conductance regulator gene as a first step in the genetic diagnosis of cystic fibrosis (CF) by associating the genotype with various clinical variables. METHODS: We evaluated 180 CF...

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Bibliographic Details
Main Authors: Fernando Augusto de Lima Marson, Carmen Silvia Bertuzzo, Maria Angela Goncalves de Oliveira Ribeiro, Antonio Fernando Ribeiro, Jose Dirceu Ribeiro
Format: Article
Language:English
Published: Sociedade Brasileira de Pneumologia e Tisiologia 2013-06-01
Series:Jornal Brasileiro de Pneumologia
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000300306&lng=en&tlng=en