Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
Clinical And Experimental Immunology
Mollin, M M; Beaumel, S S; Vigne, B B; Brault, J J; Roux-Buisson, N N; Rendu, J J; Barlogis, V V; Catho, G G; Dumeril, C C; Fouyssac, F F; Monnier, D D; Gandemer, V V; Revest, M M; Brion, J-P JP; Bost-Bru, C C; Jeziorski, E E; Eitenschenck, L L; Jarrasse, C C; Drillon Haus, S S; Houachée-Chardin, M M; Hancart, M M; Michel, G G; Bertrand, Y Y; Plantaz, D D; Kelecic, J J; Traberg, R R; Kainulainen, L L; Fauré, J J; Fieschi, F F; Stasia, M J MJ
Hematologically important mutations: X-linked chronic granulomatous disease (third update).
Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI