{"title":"COL4A5非线性变异的剪接异常是X-连锁阿尔波特综合征的发病机制之一:一个病例系列","authors":"Yang Li, Xue Yan, Zhen Luo, Xianxian Fu, Zhongju Li, Qiuzhu Xu, Juanjuan Chen, Jingmin Yang, Daru Lu","doi":"10.2147/ijnrd.s459363","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":504359,"journal":{"name":"International Journal of Nephrology and Renovascular Disease","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series\",\"authors\":\"Yang Li, Xue Yan, Zhen Luo, Xianxian Fu, Zhongju Li, Qiuzhu Xu, Juanjuan Chen, Jingmin Yang, Daru Lu\",\"doi\":\"10.2147/ijnrd.s459363\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":504359,\"journal\":{\"name\":\"International Journal of Nephrology and Renovascular Disease\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Nephrology and Renovascular Disease\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2147/ijnrd.s459363\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Nephrology and Renovascular Disease","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/ijnrd.s459363","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0