A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation. | |
Chen Jing; Ma Na; Zhao Xiaomeng; Li Wen; Zhang Qianjun; Yuan Shimin; Tan Yue-Qiu; Lu Guangxiu; Lin Ge; Du Juan | |
刊名 | Journal of human genetics
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2019 | |
ISSN号 | 1435-232X |
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/4607043 |
专题 | 湖南大学 |
作者单位 | Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan, 410078, China. Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, 410078, China. Hunan Guangxiu Hospital, Changsha, Hunan, 410078, China. Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, 410078, China. Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan, 410078, China. tandujuan@csu.edu.cn. Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, 410078, China. tandujuan@csu.edu.cn. |
推荐引用方式 GB/T 7714 | Chen Jing,Ma Na,Zhao Xiaomeng,et al. A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation.[J]. Journal of human genetics,2019. |
APA | Chen Jing.,Ma Na.,Zhao Xiaomeng.,Li Wen.,Zhang Qianjun.,...&Du Juan.(2019).A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation..Journal of human genetics. |
MLA | Chen Jing,et al."A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation.".Journal of human genetics (2019). |
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