Article
Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
Nephrology (Carlton, Vic.) - 1 May 2019
Zhang Mingchao, Liu Shuaimei, Xia Xinyi, Cui Yingxia, Li Xiaojun
Abstract excerpt
AIM: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease in humans and is caused by mutations in the PKD1 or PKD2 gene. ADPKD is heterogeneous with regard to locus and allele heterogeneity and phenotypic variability. METHODS: Using targeted capture associated with next generation sequencing (NGS), we performed a mutational analysis of Han Chinese patients with ADPKD...
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