Biallelic loss-of-function <i>ZFYVE19</i> mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.

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作者： Weisha,Luan ^[1] ; Chen-Zhi,Hao ^[2] ; Jia-Qi,Li ^[2] ; Qing,Wei ^[1] ; Jing-Yu,Gong ^[2] ; Yi-Ling,Qiu ^[3] ; Yi,Lu ^[1] ; Cong-Huan,Shen ^[1] ; Qiang,Xia ^[2] ; Xin-Bao,Xie ^[2] ; Mei-Hong,Zhang ^[4] ; Kuerbanjiang,Abuduxikuer ^[5] ; Zhong-Die,Li ^[2] ; Li,Wang ^[1] ; Qing-He,Xing ^[2] ; A S,Knisely ^[2] ; Jian-She,Wang ^[2]

作者单位： Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China. ^[1] The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China. ^[2] Laboratory for Reproductive Health, Institute of Biomedicine and Biotechnology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, Guangdong, China. ^[3] Department of Surgery, Huashan Hospital Affiliated to Fudan University, Shanghai, China. ^[4] Department of Liver Surgery and Liver Transplantation Center, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. ^[5] Institutes of Biomedical Sciences, Fudan University, Shanghai, China. ^[6] Institut für Pathologie, Medizinische Universität Graz, Graz, Austria. ^[7] The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China jshwang@shmu.edu.cn. ^[8]

关键词 clinical genetics genetic screening/counselling liver disease molecular genetics portal hypertension