G970R‐CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect

• Main Authors: Meredith C. Fidler (Author), Alexandra Buckley (Author), James C. Sullivan (Author), Marvin Statia (Author), Sylvia F. Boj (Author), Robert G. J. Vries (Author), Anne Munck (Author), Mark Higgins (Author), Matteo Moretto Zita (Author), Paul Negulescu (Author), Fredrick vanGoor (Author), Kris De Boeck (Author)
• Format: Book
• Published: Wiley, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 charac...