{"title":"[影响骨科系统的单基因疾病的全外显子组测序]。","authors":"Eri Imagawa, Noriko Miyake, Naomichi Matsumoto","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Next-generation sequencing technologies enable comprehensive genetic analyses in monogenic and oligonenic diseases. Especially whole-exome sequencing(WES)targeting exonic regions of protein coding genes is mainly used for Mendelian diseases. Here we describe a case of Hand-foot-genital syndrome arising from a HOXA13 mutation[c.1102A>T(p.Ile368Phe)]as one of successful examples in our successful WES analyses.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"515-23"},"PeriodicalIF":0.0000,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].\",\"authors\":\"Eri Imagawa, Noriko Miyake, Naomichi Matsumoto\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Next-generation sequencing technologies enable comprehensive genetic analyses in monogenic and oligonenic diseases. Especially whole-exome sequencing(WES)targeting exonic regions of protein coding genes is mainly used for Mendelian diseases. Here we describe a case of Hand-foot-genital syndrome arising from a HOXA13 mutation[c.1102A>T(p.Ile368Phe)]as one of successful examples in our successful WES analyses.</p>\",\"PeriodicalId\":502100,\"journal\":{\"name\":\"Clinical calcium\",\"volume\":\"26 4\",\"pages\":\"515-23\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical calcium\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical calcium","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].
Next-generation sequencing technologies enable comprehensive genetic analyses in monogenic and oligonenic diseases. Especially whole-exome sequencing(WES)targeting exonic regions of protein coding genes is mainly used for Mendelian diseases. Here we describe a case of Hand-foot-genital syndrome arising from a HOXA13 mutation[c.1102A>T(p.Ile368Phe)]as one of successful examples in our successful WES analyses.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
