New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
Beáta Soltész, Beáta Tóth, Nadejda Shabashova, Anastasia Bondarenko, Satoshi Okada, Sophie Cypowyj, Avinash Abhyankar, Gabriella Csorba, Szilvia Taskó, Adrien Katalin Sarkadi, Leonóra Méhes, Pavel Rozsíval, David Neumann, Liudmyla Chernyshova, Zsolt Tulassay, Anne Puel, Jean-Laurent Casanova, Anna Sediva, Jiri Litzman, László Maródi
Journal of Medical Genetics Sep 2013, 50 (9) 567-578; DOI: 10.1136/jmedgenet-2013-101570