Progressive familial intrahepatic cholestasis type 2 (PFIC-2) patients have a defect in the hepatocanalicular bile salt secretion. The disease is caused by mutations in the bile salt export pump (BSEP). Ten different missense mutations have been described. In this study, we analysed the effect of the D482G PFIC-2 mutation on BSEP function.
Department of Gastroenterology and Hepatology, Center for Liver, Digestive and Metabolic Diseases, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.
