Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy
NUP214 致病变异导致核孔通道“堵塞”和急性发热性脑病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.05.003
Boris Fichtman, Tamar Harel, Nitzan Biran, Fadia Zagairy, Carolyn D Applegate, Yuval Salzberg, Tal Gilboa, Somaya Salah, Avraham Shaag, Natalia Simanovsky, Houriya Ayoubieh, Nara Sobreira, Giuseppe Punzi, Ciro Leonardo Pierri, Ada Hamosh, Orly Elpeleg, Amnon Harel, Simon Edvardson