Cited 16 times in
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome
DC Field | Value | Language |
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dc.contributor.author | 김성순 | - |
dc.contributor.author | 이문형 | - |
dc.contributor.author | 장양수 | - |
dc.date.accessioned | 2015-07-14T16:45:20Z | - |
dc.date.available | 2015-07-14T16:45:20Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 1434-5161 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/111524 | - |
dc.description.abstract | The SCN5A gene encodes the alpha subunit of the human cardiac voltage-gated sodium channel. Mutations in SCN5A are responsible for Brugada syndrome, an inherited cardiac disease that leads to idiopathic ventricular fibrillation (IVF) and sudden death. In this study, we screened nine individuals from a single family and 12 sporadic patients who were clinically diagnosed with Brugada syndrome. Using PCR-SSCP, DHPLC, and DNA sequencing analysis, we identified a novel single missense mutation associated with Brugada syndrome in the family and detected a C5607T polymorphism in Korean subjects. A single nucleotide substitution of G to A at nucleotide position 3934 changed the coding sense of exon 21 of the SCN5A from glycine to serine (G1262S) in segment 2 of domain III (DIII-S2). Four individuals in the family carried the identical mutation in the SCN5A gene, but none of the 12 sporadic patients did. This mutation was not found in 150 unrelated normal individuals. This finding is the first report of a novel mutation in SCN5A associated with Brugada syndrome in Koreans. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 573~578 | - |
dc.relation.isPartOf | JOURNAL OF HUMAN GENETICS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | Bundle-Branch Block/genetics* | - |
dc.subject.MESH | DNA Primers | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | NAV1.5 Voltage-Gated Sodium Channel | - |
dc.subject.MESH | Sodium Channels/genetics* | - |
dc.title | Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학) | - |
dc.contributor.googleauthor | Dong-Jik Shin | - |
dc.contributor.googleauthor | Yangsoo Jang | - |
dc.contributor.googleauthor | Sungjoo Kim Yoon | - |
dc.contributor.googleauthor | Mohamed Chahine | - |
dc.contributor.googleauthor | Moon Hyoung Lee | - |
dc.contributor.googleauthor | Sung Soon Kim | - |
dc.contributor.googleauthor | Jeongki Kim | - |
dc.contributor.googleauthor | Jongmin Kim | - |
dc.contributor.googleauthor | Yoonjung Bae | - |
dc.contributor.googleauthor | Eunmin Kim | - |
dc.contributor.googleauthor | Keumjin Yang | - |
dc.contributor.googleauthor | Jong Eun Lee | - |
dc.contributor.googleauthor | Hyun-Young Park | - |
dc.identifier.doi | 10.1007/s10038-004-0182-z | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.relation.journalcode | J01446 | - |
dc.identifier.eissn | 1435-232X | - |
dc.identifier.pmid | 15338453 | - |
dc.identifier.url | http://www.nature.com/jhg/journal/v49/n10/full/jhg200490a.html | - |
dc.contributor.alternativeName | Kim, Sung Soon | - |
dc.contributor.alternativeName | Lee, Moon Hyoung | - |
dc.contributor.alternativeName | Jang, Yang Soo | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 49 | - |
dc.citation.number | 10 | - |
dc.citation.startPage | 573 | - |
dc.citation.endPage | 578 | - |
dc.identifier.bibliographicCitation | JOURNAL OF HUMAN GENETICS, Vol.49(10) : 573-578, 2004 | - |
dc.identifier.rimsid | 34895 | - |
dc.type.rims | ART | - |
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