Molecular and pharmacological evaluation of rare, cystic fibrosis‐causing missense mutations of the CFTR channel

Abstract excerpt

Cystic fibrosis (CF) is a life-threatening condition caused by pathogenic mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel. While most patients with frequent mutations are treated with a combination of corrector and potentiator drugs (elexacaftor-tezacaftor-ivacaftor, ETI), for many rare variants no such treatment is approved. Here we characterized the molecular...

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