上皮钠通道β亚基基因剪接位点突变致1型多系统假性醛固酮增多症的临床和遗传学分析

{"title":"上皮钠通道β亚基基因剪接位点突变致1型多系统假性醛固酮增多症的临床和遗传学分析","authors":"H. S, Y. H, L. C, J. Q, Qiao L, H. C, Li T","doi":"10.47829/acmcr.2021.61101","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"18 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical and Genetic Analysis of Multi-System Pseudohypoaldosteronism Type 1 Caused by a Novel Splice Site Mutation of the Beta Subunit Gene of Epithelial Sodium Channel (Enac)\",\"authors\":\"H. S, Y. H, L. C, J. Q, Qiao L, H. C, Li T\",\"doi\":\"10.47829/acmcr.2021.61101\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":380321,\"journal\":{\"name\":\"Annals of Clinical and Medical Case Reports\",\"volume\":\"18 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Clinical and Medical Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.47829/acmcr.2021.61101\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Clinical and Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.47829/acmcr.2021.61101","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}