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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Pneumologia e Tisiologia
2013-09-01
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| Series: | Jornal Brasileiro de Pneumologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000500555&lng=en&tlng=en |