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

Internet

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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