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Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China

OBJECTIVE: To improve the accuracy of the diagnosis of familial progressive intrahepatic cholestasis type 3 (PFIC3, https://www.omim.org/entry/602347). MATERIALS AND METHODS: Between September 2019 and March 2021, we recruited four patients with PFIC3 from two liver centers in East China. Molecular...

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Detalles Bibliográficos
Autores principales: Cheng, Jinlin, Gong, Ling, Mi, Xiaoxiao, Wu, Xiangyan, Zheng, Jun, Yang, Wenjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9774490/
https://www.ncbi.nlm.nih.gov/pubmed/36569137
http://dx.doi.org/10.3389/fmed.2022.962408