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Le Goff, C; Mahaut, C; Wang, L W; Allali, S; Abhyankar, A; Jensen, S; Zylberberg, L; Collod-Beroud, G; Bonnet, D; Alanay, Y; Brady, A F; Cordier, M P; Devriendt, K; Genevieve, D; Kiper, P Ö S; Kitoh, H; Krakow, D; Lynch, S A; Le Merrer, M; Mégarbane, A; Mortier, G; Odent, S; Polak, M; Rohrbach, M; Sillence, D; Stolte-Dijkstra, I; Superti-Furga, A; Rimoin, D L; Topouchian, V; Unger, S; Zabel, B; Bole-Feysot, C; Nitschke, P; Handford, P; Casanova, J L; Boileau, C; Apte, S S; Munnich, A; Cormier-Daire, V (2011). Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. American Journal of Human Genetics, 89(1):7-14.

Liu, L; Okada, S; Kong, X F; Kreins, A Y; Cypowyj, S; Abhyankar, A; Toubiana, J; Itan, Y; Audry, M; Nitschke, P; Masson, C; Toth, B; Flatot, J; Migaud, M; Chrabieh, M; Kochetkov, T; Bolze, A; Borghesi, A; Toulon, A; Hiller, J; Eyerich, S; Eyerich, K; Gulácsy, V; Chernyshova, L; Chernyshov, V; Bondarenko, A; Grimaldo, R M C; Blancas-Galicia, L; Beas, I M M; Roesler, J; Magdorf, K; Engelhard, D; Thumerelle, C; Burgel, P R; Hoernes, M; Drexel, B; Seger, R; Kusuma, T; Jansson, A F; Sawalle-Belohradsky, J; Belohradsky, B; Jouanguy, E; Bustamante, J; Bué, M; Karin, N; Wildbaum, G; Bodemer, C; Lortholary, O; Fischer, A; Blanche, S; Al-Muhsen, S; Reichenbach, J; Kobayashi, M; Rosales, F E; Lozano, C T; Kilic, S S; Oleastro, M; Etzioni, A; Traidl-Hoffmann, C; Renner, E D; Abel, L; Picard, C; Maródi, L; Boisson-Dupuis, S; Puel, A; Casanova, J L (2011). Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. Journal of Experimental Medicine, 208(8):1635-1648.

This list was generated on Sun Jul 23 07:17:13 2017 CEST.