Article
G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.
Clinical and translational science - 1 Mar 2021
Fidler Meredith C, Buckley Alexandra, Sullivan James C, Statia Marvin, Boj Sylvia F, Vries Robert G J, Munck Anne, Higgins Mark, Moretto Zita Matteo, Negulescu Paul, van Goor Fredrick, De Boeck Kris
Abstract excerpt
In previous work, participants with a G970R mutation in cystic fibrosis transmembrane conductance regulator (CFTR) (c.2908G>C) had numerically lower sweat chloride responses during ivacaftor treatment than participants with other CFTR gating mutations. The objective of this substudy was to characterize the molecular defect of the G970R mutation in vitro and assess the benefit of ivacaftor in participants with...
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