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Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease

Polycystic kidney disease (PKD) is a life-threatening inherited disease with a morbidity of 1:500–1,000 worldwide. Numerous progressively enlarging cysts are observed in the bilateral kidneys of patients with PKD, inducing structural damage and loss of kidney function. The present study analyzed one...

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Detalles Bibliográficos
Autores principales: Dong, Kexian, Miao, Huanhuan, Jia, Xueyuan, Wu, Jie, Wu, Han, Sun, Jiawei, Ji, Wei, Su, Hui, Xu, Lidan, Zhang, Xuelong, Zhu, Siqi, Ji, Guohua, Guan, Rongwei, Wang, Hao, Bai, Jing, Yu, Jingcui, Sun, Wenjing, Zhou, Xianli, Fu, Songbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423614/
https://www.ncbi.nlm.nih.gov/pubmed/30720121
http://dx.doi.org/10.3892/mmr.2019.9921