Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Coutinho, Cyntia Arivabeni de Araújo Correia, Marson, Fernando Augusto de Lima, Ribeiro, Antônio Fernando, Ribeiro, José Dirceu, Bertuzzo, Carmen Silvia
Format: Artigo
Sprog:Inglês
Udgivet: Sociedade Brasileira de Pneumologia e Tisiologia Paulo 2013
Fag:
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!