Article
System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.
Scientific reports - 26 Oct 2016
Jin Meiling, Xie Yuansheng, Chen Zhiqiang, Liao Yujie, Li Zuoxiang, Hu Panpan, Qi Yan, Yin Zhiwei, Li Qinggang, Fu Ping, Chen Xiangmei
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-generation sequencing...
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