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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Goubran, Mariam, Aderibigbe, Ayodeji, Jacquemin, Emmanuel, Guettier, Catherine, Girgis, Safwat, Bain, Vincent, Mason, Andrew L.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7708126/
https://ncbi.nlm.nih.gov/pubmed/33256620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01173-0
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