{"title":"ALG1-CDG的临床和分子特征","authors":"R. Dhamija, Chelsea Chambers","doi":"10.15844/pedneurbriefs-30-2-5","DOIUrl":null,"url":null,"abstract":"Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one pathogenic variants in thirty-nine affected individuals with ALG1-CDG from 32 families.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"14 - 14"},"PeriodicalIF":0.0000,"publicationDate":"2016-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Clinical and Molecular Characterization of ALG1-CDG\",\"authors\":\"R. Dhamija, Chelsea Chambers\",\"doi\":\"10.15844/pedneurbriefs-30-2-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one pathogenic variants in thirty-nine affected individuals with ALG1-CDG from 32 families.\",\"PeriodicalId\":30710,\"journal\":{\"name\":\"Pediatric Neurology Briefs\",\"volume\":\"30 1\",\"pages\":\"14 - 14\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Neurology Briefs\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15844/pedneurbriefs-30-2-5\",\"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-30-2-5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Clinical and Molecular Characterization of ALG1-CDG
Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one pathogenic variants in thirty-nine affected individuals with ALG1-CDG from 32 families.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
