Article
Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing.
Clinica chimica acta; international journal of clinical chemistry - 10 Jun 2014
Yang Tao, Meng Yan, Wei Xiaoming, Shen Jiandong, Zhang Mingrong, Qi Chen, Wang Chundan, Liu Jiayin, Ma Minrui, Huang Shangzhi
Abstract excerpt
BACKGROUND: Mutations of PKD1 and PKD2 accounted for the most cases of autosomal dominant polycystic kidney disease (ADPKD). The presence of the large transcript, numerous exons and complex reiterated regions within the gene has significantly complicated the analysis of PKD1 with routine PCR-based approaches. METHODS: We developed a strategy to analyze both the PKD1/PKD2 genes simultaneously using targeted...
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