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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
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.
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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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