Cystic fibrosis patients bearing both the common missense mutation, Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for...

Por Hamosh, Ada, King, Terri M., Rosenstein, Beryl J., Corey, Mary, Levison, Henry, Durie, Peter, Tsui, Lap-Chee, McIntosh, Iain, Keston, Marion, Brock, David J. H., Macek, Milan, Zemková, Dana, Krásničanová, Hana, Vávrová, Věra, Macek, Milan, Golder, Neil, Schwarz, Martin J., Super, Maurice, Watson, Eila K., Williams, Carolyn, Bush, Andrew, O'Mahoney, Sinead M., Humphries, Peter, DeArce, Miguel A., Reis, André, Bürger, Joachim, Stuhrmann, Manfred, Schmidtke, Jörg, Wulbrand, Ulrich, Dörk, Thilo, Tümmler, Burkhard, Cutting, Garry R.
Publicado em 1992

GENETIC MODIFIERS OF LIVER DISEASE IN CYSTIC FIBROSIS

Por Bartlett, Jaclyn R., Friedman, Kenneth J., Ling, Simon C., Pace, Rhonda G., Bell, Scott C., Bourke, Billy, Castaldo, Giuseppe, Castellani, Carlo, Cipolli, Marco, Colombo, Carla, Colombo, John L., Debray, Dominique, Fernandez, Adriana, Lacaille, Florence, Macek, Milan, Rowland, Marion, Salvatore, Francesco, Taylor, Christopher J., Wainwright, Claire, Wilschanski, Michael, Zemková, Dana, Hannah, William B., Phillips, M. James, Corey, Mary, Zielenski, Julian, Dorfman, Ruslan, Wang, Yunfei, Zou, Fei, Silverman, Lawrence M., Drumm, Mitchell L., Wright, Fred A., Lange, Ethan M., Durie, Peter R., Knowles, Michael R.
Publicado em 2009