Article
Cholestatic liver diseases from child to adult: the diversity of MDR3 disease.
Zeitschrift fur Gastroenterologie - 1 Jun 2011
Kubitz R, Bode J, Erhardt A, Graf D, Kircheis G, Müller-Stöver I, Reinehr R, Reuter S, Richter J, Sagir A, Schmitt M, Donner M
Abstract excerpt
The phospholipidfloppase MDR3 (gene symbol: ABCB4) is expressed in the canalicular membrane of hepatocytes and mediates the biliary excretion of phosphatidylcholine, which is required for the formation of mixed micelles in bile. Several mutations of ABCB4 have been identified, which cause cholestatic liver diseases of varying severity including progressive familial intrahepatic cholestasis type 3 (PFIC-3),...
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