Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation

• मुख्य लेखकों: Mariam Goubran (लेखक), Ayodeji Aderibigbe (लेखक), Emmanuel Jacquemin (लेखक), Catherine Guettier (लेखक), Safwat Girgis (लेखक), Vincent Bain (लेखक), Andrew L. Mason (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase t...