A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report | |
Peiwen Xu; Sexing Huang; Jie Li; Yang Zou; Ming Gao; Ranran Kang; Junhao Yan; Xuan Gao; Yuan Gao | |
刊名 | BMC Medical Genetics |
2018 | |
卷号 | Vol.19 No.1页码:1-6 |
关键词 | Autosomal dominant polycystic kidney disease PKD1 gene Novel splice mutation Frameshift mutation |
ISSN号 | 1471-2350 |
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/5461443 |
专题 | 湖南大学 |
作者单位 | Center for Reproductive Medicine, Shandong University Center for Reproductive Medicine, Shandong University Center for Reproductive Medicine, Shandong University Center for Reproductive Medicine, Shandong University Center for Reproductive Medicine, Shandong University Center for Reproductive Medicine, Shandong University Center for Reproductive Medicine, Shandong University Center for Reproductive Medicine, Shandong University Center for Reproductive Medicine, Shandong University |
推荐引用方式 GB/T 7714 | Peiwen Xu,Sexing Huang,Jie Li,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,Vol.19 No.1:1-6. |
APA | Peiwen Xu.,Sexing Huang.,Jie Li.,Yang Zou.,Ming Gao.,...&Yuan Gao.(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,Vol.19 No.1,1-6. |
MLA | Peiwen Xu,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 Vol.19 No.1(2018):1-6. |
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