Clinical trials highlights the importance of correct CFTR mutation detection in cystic fibrosis patients

Cystic Fibrosis is one of the most common genetic disorders. The disease is caused by mutations within the cystic fibrosis transmembrane conductance regulator gene (CFTR) leading to gradually decreasing lung function in affected patients. Current treatment protocols include symptomatic treatments for cystic fibrosis and a CFTR potentiator (Ivacaftor), which increases CFTR channel opening at the …

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