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CORC

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人SLC25A13基因内含子突变IVS6-11A>G导致转录子剪接异常 The mutation of IVS6-11A>G within human SLC25A13 gene leads to abnormal transcriptional splicing 期刊论文
2018, 卷号: 39, 期号: 5, 页码: 369
作者:  陈君霖[1];  李海清[1];  刘妍霖[1];  李冰肖[2];  张占会[2]
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/13
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing 期刊论文
GENE, 2014, 卷号: 533, 页码: 547-553
作者:  Liu, Gang[1,2];  Wei, Xiaoming[2];  Chen, Rui[1,2];  Zhou, Hanlin[2];  Li, Xiaoyan[2]
收藏  |  浏览/下载：4/0  |  提交时间：2019/04/25
Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency 期刊论文
2014, 卷号: 233, 期号: 4, 页码: 275
作者:  Zhang, Zhan-Hui[1,2];  Yang, Zhi-Gang[1];  Chen, Feng-Ping[3];  Kikuchi, Atsuo[4];  Liu, Zhen-Huan[5]
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/06
SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China 期刊论文
2013, 卷号: 8, 期号: [db:dc_citation_issue]
作者:  Song, Yuan-Zong[1];  Zhang, Zhan-Hui[1];  Lin, Wei-Xia[1];  Zhao, Xin-Jing[1];  Deng, Mei[1]
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/03
Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency 期刊论文
2012, 卷号: 511, 期号: [db:dc_citation_issue], 页码: 227
作者:  Zhang, Zhan-Hui[1];  Lin, Wei-Xia[1];  Deng, Mei[1];  Zhao, Xin-Jing[1];  Song, Yuan-Zong[1]
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03
The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia 期刊论文
JOURNAL OF GASTROENTEROLOGY, 2011, 卷号: 46, 期号: 4
作者:  Fu, Hai-Yan;  Zhang, Shao-Ren;  Wang, Xiao-Hong;  Saheki, Takeyori;  Kobayashi, Keiko
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/19
Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis 期刊论文
WORLD JOURNAL OF GASTROENTEROLOGY, 2010, 卷号: 16, 期号: 18
作者:  Fu, Hai-Yan;  Zhang, Shao-Ren;  Yu, Hui;  Wang, Xiao-Hong;  Zhu, Qi-Rong
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/19
The significance and spectrum of SLC25A13 gene mutation in chinese infants with intrahepatic cholestasis and aminoacidemia 期刊论文
Journal of Pediatric Gastroenterology and Nutrition, 2010
作者:  She Wang J., Fu H., Wang X.H., Yu H., Liu L.
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/19
SLC25A13 gene mutation: An important cause of infantile intrahepatic cholestasis in China 期刊论文
Hepatology International, 2009, 卷号: 3, 期号: 1
作者:  Fu H.Y., Zhang S.R., Wang X.H., Zhu Q.R., Wang J.S.
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/19
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency 期刊论文
2008, 卷号: 53, 期号: [db:dc_citation_issue], 页码: 534
作者:  Tabata, Ayako[1];  Sheng, Jian-Sheng[1];  Ushikai, Miharu[1];  Song, Yuan-Zong[1,2];  Gao, Hong-Zhi[1,3]
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03

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