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사립체 DNA의 거대 결손이 확인된 Kearns-Sayre 증후군
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 선우일남 | - |
dc.date.accessioned | 2015-06-10T12:20:09Z | - |
dc.date.available | 2015-06-10T12:20:09Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 1225-7044 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/109613 | - |
dc.description.abstract | Mitochondrial DNA (mtDNA) deletions have been found in a majority of patients with Kearns-Sayre syndrome (KSS). The proband, a 14-year-old male, presented with retinitis pigmentosa, bilateral ptosis with an external opthalmoplegia, and ragged-red fibers in his biceps. The common 5-kb deleted mtDNA was identified in the patient by a long template PCR and DNA sequencing analysis. The deletion was located within the 8469-1344 position and a 13-kb direct repeat sequence was shown in the junction. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 260~264 | - |
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 | 사립체 DNA의 거대 결손이 확인된 Kearns-Sayre 증후군 | - |
dc.title.alternative | Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | 김숙희 | - |
dc.contributor.googleauthor | 황정희 | - |
dc.contributor.googleauthor | 정기화 | - |
dc.contributor.googleauthor | 김희진 | - |
dc.contributor.googleauthor | 김지영 | - |
dc.contributor.googleauthor | 박기덕 | - |
dc.contributor.googleauthor | 선우일남 | - |
dc.contributor.googleauthor | 최병옥 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01936 | - |
dc.relation.journalcode | J01835 | - |
dc.subject.keyword | Mitochondria | - |
dc.subject.keyword | Kearns-Sayre syndrome | - |
dc.subject.keyword | Deletion | - |
dc.contributor.alternativeName | Sunwoo, Il Nam | - |
dc.contributor.affiliatedAuthor | Sunwoo, Il Nam | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 24 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 260 | - |
dc.citation.endPage | 264 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association, Vol.24(3) : 260-264, 2006 | - |
dc.identifier.rimsid | 38868 | - |
dc.type.rims | ART | - |
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