학술논문
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
Document Type
Article
Author
Kozycki, C.T.; Wang, H.; Nehrebecky, M.; Rosenzweig, S.; Romeo, T.; Deuitch, N.; Ombrello, A.K.; Aksentijevich, I.; Kastner, D.L.; Kodati, S.; Huryn, L.; Jittayasothorn, Y.; Mattapallil, M.J.; Zein, W.; Sen, N.; Warner, B.M.; Jani, P.; Moutsopoulos, N.; Kao-Hsieh, M.; Khavandgar, Z.; Baer, A.; Beach, M.; Brenchley, L.; Pelayo, E.; Hammoud, D.; Abu-Asab, M.S.; Tsai, W.L.; Gadina, M.; Ullah, E.; Brooks, B.P.; Hufnagel, R.B.; Zhou, P.; Tian, X.; Shao, F.; Soldatos, A.; Heller, T.; Yang, A.H.; Cowen, E.W.; Lee, C.-C.R.; Toro, C.; Kalsi, S.; Priel, D.L.; Kuhns, D.B.; Farley, G.; Sweetser, D.A.; Briere, L.; Yang, J.; Sobrin, L.; De Oliveira Poswar, F.; Schwartz, I.V.D.; Alves, T.S.; Dusser, P.; Koné-Paut, I.; Touitou, I.; Titah, S.M.; Van Hagen, P.M.; Van Wijck, R.T.A.; Van Der Spek, P.J.; Yano, H.; Benneche, A.; Apalset, E.M.; Jansson, R.W.; Caspi, R.R.; Takada, H.; Ida, H.; Nishikomori, R.; Verrecchia, E.; Manna, R.; Sangiorgi, E.; Beck, D.
Source
In: Annals of the Rheumatic Diseases . (Annals of the Rheumatic Diseases, 22 July 2022, 81(10):1453-1464)
Subject
Language
English
ISSN
14682060
00034967
00034967