Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients

Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive inherited disease that accounts for 10%–15% childhood cholestasis and could lead to infant disability or death. There are three well-established types of PFIC (1–3), caused by mutations in the ATP8B1, ABCB11, and ABCB4 ge...

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Detalles Bibliográficos
Autores principales: Tang, Jia, Tan, Meihua, Deng, Yihui, Tang, Hui, Shi, Haihong, Li, Mingzhen, Ma, Wei, Li, Jia, Dai, Hongzheng, Li, Jianli, Zhou, Shengmei, Li, Xu, Wei, Fengxiang, Ma, Xiaofen, Luo, Liangping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421653/
https://www.ncbi.nlm.nih.gov/pubmed/34504838
http://dx.doi.org/10.3389/fcell.2021.661599

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