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PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.

Clinical genetics - 1 Sept 2021

Xu Dechao, Bian Rongrong, Tuo Suxin, Li Xuezhen, Chen Jing, Xing Xiaohong, Lu Yunhui, Sun Lijun, Tang Xiaojing, Yu Shengqiang, Mao Zhiguo, Ma Yiyi, Mei Changlin

Abstract excerpt

PKD2 gene variants account for 4.5% to 20% of patients with autosomal dominant polycystic kidney disease (ADPKD). Little is known about the clinical characteristics of PKD2 variants in Chinese patients with ADPKD. Herein, we performed a comprehensive search for variants of PKD2 gene in 44 Chinese ADPKD pedigrees and a total of 37 variants were identified. Of these 37 variants, 18 were nonsense variants, 10...

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PMID: 34101167
DOI: 10.1111/cge.14008

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