Article
Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis.
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia - 1 Jan 2000
Coutinho Cyntia Arivabeni de Araújo Correia, Marson Fernando Augusto de Lima, Ribeiro Antônio Fernando, Ribeiro José Dirceu, Bertuzzo Carmen Silvia
Abstract excerpt
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...
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