Article
Progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect?
Pediatric research - 1 Jul 2001
Chen H L, Chang P S, Hsu H C, Lee J H, Ni Y H, Hsu H Y, Jeng Y M, Chang M H
Abstract excerpt
MDR3 P-glycoprotein mediates canalicular phospholipid transport in hepatocytes. Defects in the MDR3 gene have been found to cause a subtype of progressive familial intrahepatic cholestasis (PFIC) with high gamma-glutamyltranspeptidase (GGT) levels. Affected children develop proliferation of biliary epithelium, portal inflammation, and biliary cirrhosis. The frequency of MDR3 mutations in patients with high...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.