4VANMIL SWC,HOUWEN RHJ,KLOMP LWJ. Genetics of intrafamilial cholestasis syndromes [J]. J Med Genet,2005, 42: 449-463.
5DEMEILLIERS C,JACQUEMIN E,BARBU V,et al. Altered hepatobiliary gene expressions in PFICI:ATPSB1 gene defect is associated with CFTR downregulation[J]. Hepatology,2006,43:1125-1134.
6PAULUSMA CC,GROEN A,KUNNE C,et al. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport[J]. Hepatology, 2006,44: 195-204.
7CAI SY,GAUTAM S,NGUYEN T,et al. ATP8B1 Deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes,but FXR expression and activity are maintained[J]. Gastroenterology, 2009,136:1060-1069.
8OUDE ELFERINK RP,PAULUSMA CC,GROEN AK. Hepatocanalicular transport defects: pathophysiologic mechanisms of rare diseases[J]. Gastroenterology, 2006,130: 908-925.
9HAYASHI H,SUGIYAMA Y. 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps[J]. Hepatology,2007,45 : 1506-1516.
10STRAUTNIEKS SS,BYRNE JA,PAWLIKOWSKA L,et al. Severe bile salt export pump deficiency:82 different ABCBll mutations in 109 families [J]. Gastroenterology, 2008,134:1203-1214.