Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation

Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation

Cystic fibrosis (CF) is an autosomal recessive lethal disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes for CFTR, an epithelial cell-surface expressed protein responsible for the transport of chloride (Cl-). Gating mutations associated wi...

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Bibliographic Details
Main Author: Isabelle Sermet-Gaudelus
Format: Article
Language:English
Published: European Respiratory Society 2013-03-01
Series:European Respiratory Review
Subjects:
CFTR mutations
CFTR potentiator
cystic fibrosis
G551D
ivacaftor
personalised medicine
Online Access:http://err.ersjournals.com/content/22/127/66.full.pdf+html

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http://err.ersjournals.com/content/22/127/66.full.pdf+html

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