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International Journal of Nephrology and Renovascular Disease Volume 17, 2024 - Issue
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CASE SERIES

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series

Yang Li1 Department of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People’s Republic of ChinaView further author information
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Xue Yan2 Department of Medicine, Shanghai WeHealth Biomedical Technology Co., Ltd., Shanghai, People’s Republic of ChinaView further author information
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Zhen Luo1 Department of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People’s Republic of ChinaView further author information
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Xianxian Fu1 Department of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People’s Republic of ChinaView further author information
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Zhongju Li1 Department of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People’s Republic of ChinaView further author information
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Qiuzhu Xu3 Department of Central Supply Service Department, Haikou Orthopedic and Diabetes Hospital, Hainan, People’s Republic of ChinaView further author information
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Juanjuan Chen1 Department of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People’s Republic of ChinaView further author information
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Jingmin Yang2 Department of Medicine, Shanghai WeHealth Biomedical Technology Co., Ltd., Shanghai, People’s Republic of China;4 NHC Key Laboratory of Birth Defects and Reproductive Health (Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute), Chongqing, People’s Republic of China;5 State Key Laboratory of Genetic Engineering and MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai, People’s Republic of ChinaCorrespondence[email protected] [email protected]
View further author information
&
Daru Lu4 NHC Key Laboratory of Birth Defects and Reproductive Health (Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute), Chongqing, People’s Republic of China;5 State Key Laboratory of Genetic Engineering and MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai, People’s Republic of ChinaView further author information
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Pages 167-174 | Received 04 Feb 2024, Accepted 23 May 2024, Published online: 05 Jun 2024

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