Cargando…
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...
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 |
Ejemplares similares
-
Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease
por: Dong, Kexian, et al.
Publicado: (2020) -
The distribution of three candidate cold-resistant SNPs in six minorities in North China
por: Li, Qiuyan, et al.
Publicado: (2018) -
Molecular structure and evolution mechanism of two populations of double minutes in human colorectal cancer cells
por: Jia, Xueyuan, et al.
Publicado: (2020) -
Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract
por: Jia, Xueyuan, et al.
Publicado: (2013) -
Association between the BRCA2 rs144848 polymorphism and cancer susceptibility: a meta-analysis
por: Li, Qiuyan, et al.
Publicado: (2017)