Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3
Open Access
- 4 September 2013
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 22 (4), 572
- https://doi.org/10.1038/ejhg.2013.188
Abstract
No abstract availableThis publication has 15 references indexed in Scilit:
- Effects of Cellular, Chemical, and Pharmacological Chaperones on the Rescue of a Trafficking-defective Mutant of the ATP-binding Cassette Transporter Proteins ABCB1/ABCB4Published by Elsevier BV ,2012
- The Spectrum of Liver Diseases Related toABCB4Gene Mutations: Pathophysiology and Clinical AspectsSeminars in Liver Disease, 2010
- ABCB4 Heterozygous Gene Mutations Associated With Fibrosing Cholestatic Liver Disease in AdultsGastroenterology, 2008
- Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)European Journal of Human Genetics, 2007
- Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pillsJournal of Hepatology, 2003
- The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthoodGastroenterology, 2001
- MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasisGastroenterology, 2001
- Transient neonatal cholestasis: Origin and outcomeThe Journal of Pediatrics, 1998
- Mutations in the MDR 3 gene cause progressive familial intrahepatic cholestasisProceedings of the National Academy of Sciences of the United States of America, 1998
- Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasisHepatology, 1997