Rewriting CFTR to cure cystic fibrosis.

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive monogenic disease caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Although F508del is the most frequent mutation, there are in total 360 confirmed disease-causing CFTR mutations, impairing CFTR production, function and stability. Currently, the only causal treatments available are CFTR correctors and potentiators that...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Mutation
• Share to Cystic Fibrosis
• Share to Cystic Fibrosis Transmembrane Conductance Regulator