在一名受影响的女性中出现复发性FMR1错义突变(R138Q)

{"title":"在一名受影响的女性中出现复发性FMR1错义突变(R138Q)","authors":"Jullianne Diaz, C. Scheiner, E. Leon","doi":"10.3233/TRD-180028","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3233/TRD-180028","citationCount":"8","resultStr":"{\"title\":\"Presentation of a recurrent FMR1 missense mutation (R138Q) in an affected female\",\"authors\":\"Jullianne Diaz, C. Scheiner, E. Leon\",\"doi\":\"10.3233/TRD-180028\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":75246,\"journal\":{\"name\":\"Translational science of rare diseases\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.3233/TRD-180028\",\"citationCount\":\"8\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Translational science of rare diseases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3233/TRD-180028\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Translational science of rare diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3233/TRD-180028","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}