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

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...

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Bibliographic Details
Main Authors: Cyntia Arivabeni de Araujo Correia Coutinho, Fernando Augusto de Lima Marson, Antonio Fernando Ribeiro, Jose Dirceu Ribeiro, Carmen Silvia Bertuzzo
Format: Article
Language:English
Published: Sociedade Brasileira de Pneumologia e Tisiologia 2013-09-01
Series:Jornal Brasileiro de Pneumologia
Subjects:
Fibrose cistica
Regulador de condutancia transmembrana em fibrose cistica
Mutacao
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000500555&lng=en&tlng=en

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