Defect of multidrug‐resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis
J Deleuze, E Jacquemin, C Dubuisson, D Cresteil, M Dumont, S Erlinger, O Bernard, M Hadchouel – 1 April 1996 – Disruption of the murine mdr2 (multidrug‐resistance) gene, which encodes a phosphatidylcholine flippase, leads to a hepatic disorder because of loss of biliary phospholipid secretion. Among the hereditary human cholestasis, a subtype of progressive familial intrahepatic cholestasis with high gamma‐glutamyltranspeptidase (GGT) serum activity shares histological, biochemical, and genetic features with mice lacking mdr2 gene expression (mdr2 ‐/‐ mice).