雅库特人常染色体隐性先天性白内障发生的FYCO1基因突变年龄c.1621C> p.(Gln541*)的估计

{"title":"雅库特人常染色体隐性先天性白内障发生的FYCO1基因突变年龄c.1621C> p.(Gln541*)的估计","authors":"T. V. Borisova, V. Pshennikova, F. M. Teryutin, A. Solovyov, G. Romanov, S. Fedorova, N. Barashkov","doi":"10.25789/ymj.2022.80.02","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":42701,"journal":{"name":"Yakut Medical Journal","volume":"27 1","pages":""},"PeriodicalIF":0.1000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Estimation of the mutation age c.1621C>T p.(Gln541*) in the FYCO1 gene responsible for the development of autosomal recessive congenital cataract in the Yakut population\",\"authors\":\"T. V. Borisova, V. Pshennikova, F. M. Teryutin, A. Solovyov, G. Romanov, S. Fedorova, N. Barashkov\",\"doi\":\"10.25789/ymj.2022.80.02\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":42701,\"journal\":{\"name\":\"Yakut Medical Journal\",\"volume\":\"27 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.2022.80.02\",\"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.2022.80.02","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}