Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
C2orf69 的缺失会导致人类和斑马鱼发生致命的自身炎症综合征，并引发与糖原储存相关的线粒体病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.06.009
Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y T; Chia, Crystal Y; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M; Sirota, Fernanda L; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Çïmen, Deniz Uğurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Lainé, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yılmaz, Elanur; Xue, Shifeng; Coon, Joshua J; Nguyen Ly, Thanh Thao; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S; Isfort, Robert J; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Işıkay, Sedat; Gleeson, Joseph G; Lupski, James R; Casanova, Jean-Laurent; Pagliarini, David J; Akarsu, Nurten A; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S; Ho, Lena; Bard, Frederic A; Reversade, Bruno
