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Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report

BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a rare group of autosomal recessive hereditary hepatic diseases. There are three types of PFIC, classified according to the mutated gene. For example, PFIC type 3 (PFIC3) is due to mutations in the ABCB4 gene (encoding multidrug-res...

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Detalles Bibliográficos
Autores principales: Wu, Zhenping, Zhang, Siying, Zhang, Lunli, Li, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175503/
https://www.ncbi.nlm.nih.gov/pubmed/32321542
http://dx.doi.org/10.1186/s13000-020-00955-7