Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na(V)1.7 produce distinct pain disorders

por Cheng, Xiaoyang, Dib-Hajj, Sulayman D, Tyrrell, Lynda, Wright, Dowain A, Fischer, Tanya Z, Waxman, Stephen G
Publicado 2010

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

por Depner, Mark, Fuchs, Sebastian, Raabe, Jan, Frede, Natalie, Glocker, Cristina, Doffinger, Rainer, Gkrania-Klotsas, Effrossyni, Kumararatne, Dinakantha, Atkinson, T. Prescott, Schroeder, Harry W., Niehues, Tim, Dückers, Gregor, Stray-Pedersen, Asbjørg, Baumann, Ulrich, Schmidt, Reinhold, Franco, Jose L., Orrego, Julio, Ben-Shoshan, Moshe, McCusker, Christine, Jacob, Cristina Miuki Abe, Carneiro-Sampaio, Magda, Devlin, Lisa A., Edgar, J. David M., Henderson, Paul, Russell, Richard K., Skytte, Anne-Bine, Seneviratne, Suranjith L., Wanders, Jennifer, Stauss, Hans, Meyts, Isabelle, Moens, Leen, Jesenak, Milos, Kobbe, Robin, Borte, Stephan, Borte, Michael, Wright, Dowain A., Hagin, David, Torgerson, Troy R., Grimbacher, Bodo
Publicado 2015