EIF2B5基因外显子2纯合c.318A>GT突变与婴儿型消失性白质脑白质病的关系

{"title":"EIF2B5基因外显子2纯合c.318A>GT突变与婴儿型消失性白质脑白质病的关系","authors":"C. Esmer, Gabriela Blanco-Hernández, V. Saavedra-Alanis, J. Reyes-Vaca, A. Bravo-Oro","doi":"10.24875/bmhime.m17000007","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":100195,"journal":{"name":"Boletín Médico Del Hospital Infantil de México (English Edition)","volume":"23 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy\",\"authors\":\"C. Esmer, Gabriela Blanco-Hernández, V. Saavedra-Alanis, J. Reyes-Vaca, A. Bravo-Oro\",\"doi\":\"10.24875/bmhime.m17000007\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":100195,\"journal\":{\"name\":\"Boletín Médico Del Hospital Infantil de México (English Edition)\",\"volume\":\"23 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-01-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Boletín Médico Del Hospital Infantil de México (English Edition)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.24875/bmhime.m17000007\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Boletín Médico Del Hospital Infantil de México (English Edition)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24875/bmhime.m17000007","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}