Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis

OBJECTIVE: To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. METHODS: This was a cro...

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Hlavní autoři: Coutinho, Cyntia Arivabeni de Araújo Correia, Marson, Fernando Augusto de Lima, Ribeiro, Antônio Fernando, Ribeiro, José Dirceu, Bertuzzo, Carmen Silvia
Médium: Artigo
Jazyk:Inglês
Vydáno: Sociedade Brasileira de Pneumologia e Tisiologia Paulo 2013
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4075877/
https://ncbi.nlm.nih.gov/pubmed/24310628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1806-37132013000500005
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