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

• Hoofdauteurs: Mariam Goubran (Auteur), Ayodeji Aderibigbe (Auteur), Emmanuel Jacquemin (Auteur), Catherine Guettier (Auteur), Safwat Girgis (Auteur), Vincent Bain (Auteur), Andrew L. Mason (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2020-11-01T00:00:00Z.
• Onderwerpen: article
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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...