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Novel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report

BACKGROUND: Mutations that occur in the ABCB4 gene, which encodes multidrug-resistant protein 3, underlie the occurrence of progressive familial intrahepatic cholestasis type 3 (PFIC3). Clinical signs of intrahepatic cholestasis due to gene mutations typically first appear during infancy or childhoo...

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Detalles Bibliográficos
Autores principales: Liu, Tian-Fu, He, Jing-Jing, Wang, Liang, Zhang, Ling-Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891790/
https://www.ncbi.nlm.nih.gov/pubmed/35317165
http://dx.doi.org/10.12998/wjcc.v10.i6.1998