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. Kozycki, C., T., Kodati, S., Huryn, L., Wang, H., Warner, B., M., Jani, P., Hammoud, D., Abu-Asab, M., S., Jittayasothorn, Y., Mattapallil, M., J., Tsai, W., L., Ullah, E., Zhou, P., Tian, X., Soldatos, A., Moutsopoulos, N., Kao-Hsieh, M., Heller, T., Cowen, E., W., Lee, C., R., Toro, C., Kalsi, S., Khavandgar, Z., Baer, A., Beach, M., Long Priel, D., Nehrebecky, M., Rosenzweig, S., Romeo, T., Deuitch, N., Brenchley, L., Pelayo, E., Zein, W., Sen, N., Yang, A., H., Farley, G., Sweetser, D., A., Briere, L., Yang, J., de Oliveira Poswar, F., Schwartz, I., Silva Alves, T., 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., Kuhns, D., B., Gadina, M., Takada, H., Ida, H., Nishikomori, R., Verrecchia, E., Sangiorgi, E., Manna, R., Brooks, B., P., Sobrin, L., Hufnagel, R., Beck, D., Shao, F., Ombrello, A., K., Aksentijevich, I., & Kastner, D., L. Annals of the Rheumatic Diseases, 7, 2022.
Website doi bibtex @article{
title = {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},
type = {article},
year = {2022},
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month = {7},
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author = {Kozycki, Christina Torres and Kodati, Shilpa and Huryn, Laryssa and Wang, Hongying and Warner, Blake M and Jani, Priyam and Hammoud, Dima and Abu-Asab, Mones S and Jittayasothorn, Yingyos and Mattapallil, Mary J and Tsai, Wanxia Li and Ullah, Ehsan and Zhou, Ping and Tian, Xiaoying and Soldatos, Ariane and Moutsopoulos, Niki and Kao-Hsieh, Marie and Heller, Theo and Cowen, Edward W and Lee, Chyi-Chia Richard and Toro, Camilo and Kalsi, Shelley and Khavandgar, Zohreh and Baer, Alan and Beach, Margaret and Long Priel, Debra and Nehrebecky, Michele and Rosenzweig, Sofia and Romeo, Tina and Deuitch, Natalie and Brenchley, Laurie and Pelayo, Eileen and Zein, Wadih and Sen, Nida and Yang, Alexander H and Farley, Gary and Sweetser, David A and Briere, Lauren and Yang, Janine and de Oliveira Poswar, Fabiano and Schwartz, Ida and Silva Alves, Tamires and Dusser, Perrine and Koné-Paut, Isabelle and Touitou, Isabelle and Titah, Salah Mohamed and van Hagen, Petrus Martin and van Wijck, Rogier T A and van der Spek, Peter J and Yano, Hiromi and Benneche, Andreas and Apalset, Ellen M and Jansson, Ragnhild Wivestad and Caspi, Rachel R and Kuhns, Douglas Byron and Gadina, Massimo and Takada, Hidetoshi and Ida, Hiroaki and Nishikomori, Ryuta and Verrecchia, Elena and Sangiorgi, Eugenio and Manna, Raffaele and Brooks, Brian P and Sobrin, Lucia and Hufnagel, Robert and Beck, David and Shao, Feng and Ombrello, Amanda K and Aksentijevich, Ivona and Kastner, Daniel L},
doi = {10.1136/annrheumdis-2022-222629},
journal = {Annals of the Rheumatic Diseases}
}
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