id author title date pages extension mime words sentences flesch summary cache txt work_y6xvhkczvjdslpwrorji4thpga Richard H. Moseley What the Amish can tell us about? cholestasis 1998.0 3 .pdf application/pdf 3151 241 56 familial intrahepatic cholestasis type 1 (PFIC1), were previously mapped to 18q21. develop progressive liver disease, characterized histologically by portal inflammation, proliferation of the bile duct progressive familial intrahepatic cholestasis patients with Our results demonstrate that mutations in the human MDR3 gene lead to Progressive familial intrahepatic cholestasis (PFIC) is the gene mutated in PFIC1 and BRIC patients, termed FIC1 (for familial intrahepatic cholestasis 1), exhibits significant similarity to a subfamily of P-type ATPase genes that encode findings suggest that spgp is a canalicular bile acid transporter and that mutations of the human liver SPGP gene are identified in patients with PFIC2 (Richard Thompson, Department of Pediatrics, University College London Medical School, familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22 the patients with progressive familial cholestasis (PFIC-2). We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE. ./cache/work_y6xvhkczvjdslpwrorji4thpga.pdf ./txt/work_y6xvhkczvjdslpwrorji4thpga.txt