Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.

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作者： Xiaojin,Li ^[1] ; Wei,Zhang ^[2] ; Donghu,Zhou ^[3] ; Tingxia,Lv ^[4] ; Anjian,Xu ^[2] ; Hejing,Wang ^[3] ; Xinyan,Zhao ^[1] ; Bei,Zhang ^[2] ; Yanmeng,Li ^[3] ; Siyu,Jia ^[1] ; Yu,Wang ^[2] ; Xiaoming,Wang ^[3] ; Zhen,Wu ^[1] ; Weijia,Duan ^[2] ; Qianyi,Wang ^[3] ; Yuemin,Nan ^[1] ; Jia,Shang ^[2] ; Wei,Jiang ^[3] ; Yongpeng,Chen ^[4] ; Sujun,Zheng ^[2] ; Mei,Liu ^[3] ; Liying,Sun ^[1] ; Hong,You ^[2] ; Jidong,Jia ^[3] ; Xiaojuan,Ou ^[1] ; Jian,Huang ^[2]

作者单位： Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China. ^[1] Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China. ^[2] Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China. ^[3] Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China. ^[4] Department of Traditional and Western Medical Hepatology, Third Hospital of Hebei Medical University, Shijiazhuang, China. ^[5] Department of Infectious Diseases, Henan Provincial People's Hospital, Zhengzhou, Henan, China. ^[6] Department of Gastroenterology, Zhongshan Hospital, Fudan University, Shanghai, China. ^[7] Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China. ^[8] Artificial Liver Center, Beijing You-An Hospital, Capital Medical University, Beijing, China. ^[9] Liver Transplant Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China. ^[10]

关键词 ATP7B mutation pattern Functional consequence Pedigree analysis Wilson disease Yeast model