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Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes

Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1). However, the genetic cause, pathologic features, and mechanism of action of ARPKD are not well known. Here, we identified a family with ARPKD....

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Detalles Bibliográficos
Autores principales:	Xu, Chengxian, Yang, Chenxi, Ye, Qing, Xu, Jie, Tong, Lingxiao, Zhang, Yuchen, Shen, Huijun, Lu, Zhihong, Wang, Jingjing, Lai, Enyin, Mao, Jianhua, Jiang, Pingping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8716551/ https://www.ncbi.nlm.nih.gov/pubmed/34977057 http://dx.doi.org/10.3389/fmed.2021.743150

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