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	A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report
	Xu, Peiwen; Huang, Sexing; Li, Jie; Zou, Yang; Gao, Ming; Kang, Ranran; Yan, Junhao; Gao, Xuan; Gao, Yuan
刊名	BMC MEDICAL GENETICS
	2018
卷号	19期号:1
关键词	Autosomal dominant polycystic kidney disease PKD1 gene Novel splice mutation Frameshift mutation
DOI	10.1186/s12881-018-0706-6
URL标识	查看原文
公开日期	[db:dc_date_available]
内容类型	期刊论文
URI标识	http://www.corc.org.cn/handle/1471x/4572127
专题	山东大学
作者单位	Shandong Univ, Ctr Reprod Med, Jinan 25000
推荐引用方式 GB/T 7714	Xu, Peiwen,Huang, Sexing,Li, Jie,et al. A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report[J]. BMC MEDICAL GENETICS,2018,19(1).
APA	Xu, Peiwen.,Huang, Sexing.,Li, Jie.,Zou, Yang.,Gao, Ming.,...&Gao, Yuan.(2018).A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report.BMC MEDICAL GENETICS,19(1).
MLA	Xu, Peiwen,et al."A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report".BMC MEDICAL GENETICS 19.1(2018).

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