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

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 that tran...

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Detalles Bibliográficos
Autores principales: Goubran, Mariam, Aderibigbe, Ayodeji, Jacquemin, Emmanuel, Guettier, Catherine, Girgis, Safwat, Bain, Vincent, Mason, Andrew L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708126/
https://www.ncbi.nlm.nih.gov/pubmed/33256620
http://dx.doi.org/10.1186/s12881-020-01173-0

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