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Article

Two CFTR mutations within codon 970 differently impact on the chloride channel functionality

9 Mar 2019

Abstract excerpt

Pharmacological rescue of mutant cystic fibrosis transmembrane conductance regulator (CFTR) in cystic fibrosis (CF) depends on the specific defect caused by different mutation classes. We asked whether a patient with the rare p.Gly970Asp (c.2909G>A) mutation could benefit from CFTR pharmacotherapy since a similar missense mutant p.Gly970Arg (c.2908G>C) was previously found to be sensitive to potentiators in vitro...

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PMID: 30851139
DOI: 10.1002/humu.23741

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