MMUT基因第11外显子纯合错义变异c.1837C>T引起的甲基丙二酸血症，该变异意义不确定:1例报告

{"title":"MMUT基因第11外显子纯合错义变异c.1837C>T引起的甲基丙二酸血症，该变异意义不确定:1例报告","authors":"G. Phani Kumar, Mashingbonio Dirinamai, B. Manishkumar, Susheel kumar saini, Ajay kumar saini, S. Kumari","doi":"10.26502/fjhs.106","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":73052,"journal":{"name":"Fortune journal of health sciences","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Methylmalonic acidemia caused by Homozygous Missense variant c.1837C>T in Exon 11 of the MMUT gene which is Variant of Uncertain Significance: A Case Report\",\"authors\":\"G. Phani Kumar, Mashingbonio Dirinamai, B. Manishkumar, Susheel kumar saini, Ajay kumar saini, S. Kumari\",\"doi\":\"10.26502/fjhs.106\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":73052,\"journal\":{\"name\":\"Fortune journal of health sciences\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fortune journal of health sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.26502/fjhs.106\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fortune journal of health sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26502/fjhs.106","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}