{"title":"基因检测需要NGS和Sanger方法","authors":"L. Jennings, D. Kirschmann","doi":"10.15844/pedneurbriefs-30-9-1","DOIUrl":null,"url":null,"abstract":"Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"36 - 36"},"PeriodicalIF":0.0000,"publicationDate":"2016-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.15844/pedneurbriefs-30-9-1","citationCount":"2","resultStr":"{\"title\":\"Genetic Testing Requires NGS and Sanger Methodologies\",\"authors\":\"L. Jennings, D. Kirschmann\",\"doi\":\"10.15844/pedneurbriefs-30-9-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.\",\"PeriodicalId\":30710,\"journal\":{\"name\":\"Pediatric Neurology Briefs\",\"volume\":\"30 1\",\"pages\":\"36 - 36\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.15844/pedneurbriefs-30-9-1\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Neurology Briefs\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15844/pedneurbriefs-30-9-1\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Neurology Briefs","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15844/pedneurbriefs-30-9-1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Genetic Testing Requires NGS and Sanger Methodologies
Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.
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