VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1

por Ren, Hong Yu, Grove, Diane E., De La Rosa, Oxana, Houck, Scott A., Sopha, Pattarawut, Van Goor, Fredrick, Hoffman, Beth J., Cyr, Douglas M.
Publicado 2013

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

por 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
Publicado 2020

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

por Sosnay, Patrick R, Siklosi, Karen R, Van Goor, Fredrick, Kaniecki, Kyle, Yu, Haihui, Sharma, Neeraj, Ramalho, Anabela S, Amaral, Margarida D, Dorfman, Ruslan, Zielenski, Julian, Masica, David L, Karchin, Rachel, Millen, Linda, Thomas, Philip J, Patrinos, George P, Corey, Mary, Lewis, Michelle H, Rommens, Johanna M, Castellani, Carlo, Penland, Christopher M, Cutting, Garry R
Publicado 2013