A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T
Publication Date: 2022-02-08
Variant appearance in text: CASKIN1: 1922C>T; Pro641Leu
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T
Publication Date: 2022-02-08
Variant appearance in text: CASKIN1: 1922C>T; Pro641Leu