Effect of missense mutations of the MDR3 gene identified in patients with progressive familial intrahepatic cholestasis type III

被引:0
|
作者
Durand-Schneider, Anne-Marie
Abarane, Amina
Delautier, Daniele
Slimane, Tounsia Ait
Delaunay, Jean-Louis
Gora, Sarah
Trugnan, Germain
Jacquemin, Emmanuel
Maurice, Michele
机构
[1] INSERM, U538, Paris, France
[2] Publ Assistance Paris, Paris, France
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
1162
引用
收藏
页码:622A / 622A
页数:1
相关论文
共 50 条
  • [31] Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis
    Goto, K
    Sugiyama, K
    Sugiura, T
    Ando, T
    Mizutani, F
    Terabe, K
    Ban, K
    Togari, H
    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2003, 36 (05): : 647 - 650
  • [32] Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model
    Weber, Nicholas D.
    Odriozola, Leticia
    Martinez-Garcia, Javier
    Ferrer, Veronica
    Douar, Anne
    Benichou, Bernard
    Gonzalez-Aseguinolaza, Gloria
    Smerdou, Cristian
    NATURE COMMUNICATIONS, 2019, 10 (1)
  • [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] Seventy-four mutations in children with Progressive Familial Intrahepatic Cholestasis type 1, 2 or 3
    Kluge, Stefanie
    Droege, Carola
    Haeussinger, Dieter
    Kubitz, Ralf
    HEPATOLOGY, 2013, 58 : 1054A - 1054A
  • [36] Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model
    Nicholas D. Weber
    Leticia Odriozola
    Javier Martínez-García
    Veronica Ferrer
    Anne Douar
    Bernard Bénichou
    Gloria González-Aseguinolaza
    Cristian Smerdou
    Nature Communications, 10
  • [37] Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1
    Emmanuel Gonzales
    Anne Spraul
    Emmanuel Jacquemin
    European Journal of Human Genetics, 2014, 22 : 572 - 572
  • [38] Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 2
    Emmanuel Gonzales
    Anne Spraul
    Emmanuel Jacquemin
    European Journal of Human Genetics, 2014, 22 : 572 - 572
  • [39] Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 2
    Gonzales, Emmanuel
    Spraul, Anne
    Jacquemin, Emmanuel
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (04) : e1 - e4
  • [40] MDR1 as a Potential Therapeutic Target for Progressive Familial Intrahepatic Cholestasis Type II in Children
    Fourman, Makenzie
    Ellis, Jillian
    Nartker, Hannah
    Yin, Chunyue
    AMERICAN JOURNAL OF PATHOLOGY, 2022, 192 (09): : S7 - S8