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