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首页> Liver international : official journal of the International Association for the Study of the Liver> A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.

A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.

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作者： Wei,Zhang ^[1] ; Anjian,Xu ^[2] ; Yanmeng,Li ^[3] ; Suxian,Zhao ^[2] ; Donghu,Zhou ^[3] ; Lina,Wu ^[4] ; Bei,Zhang ^[2] ; Xinyan,Zhao ^[3] ; Yu,Wang ^[4] ; Xiaoming,Wang ^[5] ; Weijia,Duan ^[2] ; Qianyi,Wang ^[3] ; Yuemin,Nan ^[4] ; Hong,You ^[1] ; Jidong,Jia ^[2] ; Xiaojuan,Ou ^[3] ; Jian,Huang ^[2] ; China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group ^[3]

作者单位： Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China. ^[1] Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing, China. ^[2] National Clinical Research Center for Digestive Diseases, Beijing, China. ^[3] Experimental 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]

关键词 SLC40A1 mutation ferroportin gain of function haemochromatosis

主题词青少年(Adolescent);成年人(Adult);老年人(Aged);阳离子转运蛋白质类(Cation Transport Proteins);中国(China);女(雌)性(Female);铁蛋白质类(Ferritins);HEK293细胞(HEK293 Cells);血色素沉着症(Hemochromatosis);人类(Humans);铁(Iron);男(雄)性(Male);中年人(Middle Aged);突变, 误义(Mutation, Missense);系谱(Pedigree);前瞻性研究(Prospective Studies)

DOI 10.1111/liv.14013

PMID 30500107

发布时间 2020-07-21

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Liver international : official journal of the International Association for the Study of the Liver

Liver international

2019年39卷6期

1120-1127页

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