A NEW TIGHT JUNCTION PROTEIN 2 VARIATION IN ADULTS OF A FAMILY WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 4

被引：0
|
作者：
Wei, Chunshan [1 ,2 ]
Becker, Naja [3 ]
Friis, Jenny [3 ]
Ott, Peter [1 ]
Vogel, Ida [3 ]
Gronbaek, Henning [1 ]
机构：
[1] Aarhus Univ Hosp, Dept Gastroenterol & Hepatol, Aarhus, Denmark
[2] Guangzhou Univ Chinese Med, Dept Hepatol, Shenzhen Tradit Chinese Med Hosp, Clin Med Coll 4, Guangzhou, Guangdong, Peoples R China
[3] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark
来源：
HEPATOLOGY | 2019年 / 70卷
关键词：
D O I：
暂无
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
1971
引用
收藏
页码：1177A / 1177A
页数：1
相关论文
共 50 条
  • [31] Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3
    Hao-Zhe Sun
    Hong Shi
    Shun-Cai Zhang
    Xi-Zhong Shen
    World Journal of Gastroenterology, 2015, (02) : 699 - 703
  • [32] Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3
    Sun, Hao-Zhe
    Shi, Hong
    Zhang, Shun-Cai
    Shen, Xi-Zhong
    WORLD JOURNAL OF GASTROENTEROLOGY, 2015, 21 (02) : 699 - 703
  • [33] Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3
    Park, Hyo Jin
    Kim, Tae Hee
    Kim, So Won
    Noh, Shin Hye
    Cho, Kyeong Jee
    Choi, Choe
    Kwon, Eun Young
    Choi, Yang Ji
    Gee, Heon Yung
    Choi, Ji Ha
    SCIENTIFIC REPORTS, 2016, 6
  • [34] Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3
    Hyo Jin Park
    Tae Hee Kim
    So Won Kim
    Shin Hye Noh
    Kyeong Jee Cho
    Choe Choi
    Eun Young Kwon
    Yang Ji Choi
    Heon Yung Gee
    Ji Ha Choi
    Scientific Reports, 6
  • [35] Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3
    Gonzales, Emmanuel
    Spraul, Anne
    Jacquemin, Emmanuel
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (04) : e1 - e4
  • [36] Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills
    Ganne-Carrié, N
    Baussan, C
    Grando, V
    Gaudelus, J
    Cresteil, D
    Jacquemin, E
    JOURNAL OF HEPATOLOGY, 2003, 38 (05) : 693 - 694
  • [37] A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3
    Delaunay, Jean-Louis
    Durand-Schneider, Anne-Marie
    Dossier, Claire
    Falguieres, Thomas
    Gautherot, Julien
    Davit-Spraul, Anne
    Ait-Slimane, Tounsia
    Housset, Chantal
    Jacquemin, Emmanuel
    Maurice, Michele
    HEPATOLOGY, 2016, 63 (05) : 1620 - 1631
  • [38] PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS: DETECTION OF NEW MUTATIONS AND UNUSUAL MODALITY OF TRANSMISSION
    Francalanci, P.
    Giovannoni, I.
    Santorelli, F. M.
    Mariani, R.
    Gennari, F.
    Torre, G.
    Di Rocco, M.
    Castana, C.
    Zancan, L.
    Callea, F.
    DIGESTIVE AND LIVER DISEASE, 2010, 42 : S16 - S16
  • [39] Progressive Familial Intrahepatic Cholestasis: Detection of New Mutations and Unusual Modality of Transmission
    Francalanci, P.
    Giovannoni, I.
    Santorelli, F. M.
    Mariani, R.
    Gennari, F.
    Torre, G.
    Di Rocco, M.
    Castana, C.
    Zancan, L.
    Callea, F.
    LABORATORY INVESTIGATION, 2011, 91 : 360A - 360A
  • [40] Progressive Familial Intrahepatic Cholestasis: Detection of New Mutations and Unusual Modality of Transmission
    Francalanci, P.
    Giovannoni, I.
    Santorelli, F. M.
    Mariani, R.
    Gennari, F.
    Torre, G.
    Di Rocco, M.
    Castana, C.
    Zancan, L.
    Callea, F.
    MODERN PATHOLOGY, 2011, 24 : 360A - 360A
12345