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 patie...

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Main Authors: Marson, Fernando Augusto de Lima, Bertuzzo, Carmen Silvia, Ribeiro, Maria Ângela Gonçalves de Oliveira, Ribeiro, Antônio Fernando, Ribeiro, José Dirceu
Formato: Artigo
Idioma:Inglês
Publicado: Sociedade Brasileira de Pneumologia e Tisiologia 2013
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4075852/
https://ncbi.nlm.nih.gov/pubmed/23857699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1806-37132013000300007
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