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심부정맥, 주기성마비 및 KCNJ2유전자 돌연변이를 가진 안데르센 증후군 2가계
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김승민 | - |
dc.contributor.author | 선우일남 | - |
dc.date.accessioned | 2015-06-10T12:20:02Z | - |
dc.date.available | 2015-06-10T12:20:02Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 1225-7044 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/109609 | - |
dc.description.abstract | Andersen's syndrome is a rare autosomal dominant disorder characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is known to be a type of potassium channelopathies with a mutation in the KCNJ2 (Kir2.1) gene. Here, we present two families with genetically confirmed Andersen’s syndrome through clinical and electrophysiological findings. They showed all features of the triad, and one of them had a novel mutation c.307G>A (Met307Ile). | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 265~269 | - |
dc.relation.isPartOf | Journal of the Korean Neurological Association | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 심부정맥, 주기성마비 및 KCNJ2유전자 돌연변이를 가진 안데르센 증후군 2가계 | - |
dc.title.alternative | Two Families of Andersen’s Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | 서범천 | - |
dc.contributor.googleauthor | 최병옥 | - |
dc.contributor.googleauthor | 정기화 | - |
dc.contributor.googleauthor | 김승민 | - |
dc.contributor.googleauthor | 정연경 | - |
dc.contributor.googleauthor | 김상범 | - |
dc.contributor.googleauthor | 선우일남 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00653 | - |
dc.contributor.localId | A01936 | - |
dc.relation.journalcode | J01835 | - |
dc.subject.keyword | Andersen‘s syndrome | - |
dc.subject.keyword | Periodic paralysis | - |
dc.subject.keyword | Exercise test | - |
dc.contributor.alternativeName | Kim, Seung Min | - |
dc.contributor.alternativeName | Sunwoo, Il Nam | - |
dc.contributor.affiliatedAuthor | Kim, Seung Min | - |
dc.contributor.affiliatedAuthor | Sunwoo, Il Nam | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 24 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 265 | - |
dc.citation.endPage | 269 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association, Vol.24(3) : 265-269, 2006 | - |
dc.identifier.rimsid | 38865 | - |
dc.type.rims | ART | - |
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