阿尔波特综合征雅库特家族COL4A5基因的新突变

{"title":"阿尔波特综合征雅库特家族COL4A5基因的新突变","authors":"A. M. Cherdonova, N. Barashkov, F. M. Teryutin, V. Pshennikova, T. V. Borisova, A. A. Nikanorova, A. Solovyov, G. Romanov, S. Fedorova","doi":"10.25789/ymj.2022.80.05","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":42701,"journal":{"name":"Yakut Medical Journal","volume":"54 1","pages":""},"PeriodicalIF":0.1000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel mutation in the COL4A5 gene in the Yakut family with Alport syndrome\",\"authors\":\"A. M. Cherdonova, N. Barashkov, F. M. Teryutin, V. Pshennikova, T. V. Borisova, A. A. Nikanorova, A. Solovyov, G. Romanov, S. Fedorova\",\"doi\":\"10.25789/ymj.2022.80.05\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":42701,\"journal\":{\"name\":\"Yakut Medical Journal\",\"volume\":\"54 1\",\"pages\":\"\"},\"PeriodicalIF\":0.1000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Yakut Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25789/ymj.2022.80.05\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Yakut Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25789/ymj.2022.80.05","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}