CA Quintero Vasquez, I. Gonzalez, ML Quevedo Camera, AM García Ordonez, LG Celis Regalado
{"title":"新发结节性硬化症3例新突变的检测","authors":"CA Quintero Vasquez, I. Gonzalez, ML Quevedo Camera, AM García Ordonez, LG Celis Regalado","doi":"10.17352/SJGGT.000017","DOIUrl":null,"url":null,"abstract":"Introduction: The tuberous sclerosis complex is a multisystemic disease of autosomal dominant etiology, not pretty common in Latin America. It is caused by the mutation of the TSC1 and TSC2 genes which is characterized by uncontrolled production of Hamartomas in diverse organs and systems. However, some patients could present asymptomatic characteristics whereas other could experience fatal symptoms.","PeriodicalId":197606,"journal":{"name":"Scientific Journal of Genetics and Gene Therapy","volume":"33 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2019-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Detection of new mutations in 3 cases de novo tuberous sclerosis\",\"authors\":\"CA Quintero Vasquez, I. Gonzalez, ML Quevedo Camera, AM García Ordonez, LG Celis Regalado\",\"doi\":\"10.17352/SJGGT.000017\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Introduction: The tuberous sclerosis complex is a multisystemic disease of autosomal dominant etiology, not pretty common in Latin America. It is caused by the mutation of the TSC1 and TSC2 genes which is characterized by uncontrolled production of Hamartomas in diverse organs and systems. However, some patients could present asymptomatic characteristics whereas other could experience fatal symptoms.\",\"PeriodicalId\":197606,\"journal\":{\"name\":\"Scientific Journal of Genetics and Gene Therapy\",\"volume\":\"33 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-09-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Scientific Journal of Genetics and Gene Therapy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17352/SJGGT.000017\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Scientific Journal of Genetics and Gene Therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17352/SJGGT.000017","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Detection of new mutations in 3 cases de novo tuberous sclerosis
Introduction: The tuberous sclerosis complex is a multisystemic disease of autosomal dominant etiology, not pretty common in Latin America. It is caused by the mutation of the TSC1 and TSC2 genes which is characterized by uncontrolled production of Hamartomas in diverse organs and systems. However, some patients could present asymptomatic characteristics whereas other could experience fatal symptoms.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
