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유전자 검사로 확인된 제 8형 척수소뇌성실조증 1예

DC Field Value Language
dc.contributor.author이명식-
dc.date.accessioned2015-05-19T17:15:56Z-
dc.date.available2015-05-19T17:15:56Z-
dc.date.issued2008-
dc.identifier.issn2093-4939-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/107817-
dc.description.abstractSpinocerebellar ataxia type 8 patients typically have a slowly progressive, adult-onset ataxia. SCA8 is characterized by relatively pure cerebellar ataxia, which is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We report a 58 years old woman with slowly progressive dysarthria, and gait ataxia. We performed genetic studies for SCA 1, 2, 3, 6, 7, 8, 17 and detected CTA/CTG repeat expansion in the SCA8 gene.-
dc.description.statementOfResponsibilityopen-
dc.format.extent90~92-
dc.relation.isPartOfJOURNAL OF MOVEMENT DISORDERS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.title유전자 검사로 확인된 제 8형 척수소뇌성실조증 1예-
dc.title.alternativeA Case of Genetically Confirmed Spinocerebellar Ataxia Type 8-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학)-
dc.contributor.googleauthor서경임-
dc.contributor.googleauthor김원찬-
dc.contributor.googleauthor이명식-
dc.identifier.doi10.14802/jmd.08017-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA02753-
dc.relation.journalcodeJ01610-
dc.identifier.eissn2005-940X-
dc.identifier.pmidSpinocerebellar ataxia type 8; CTG repeat-
dc.subject.keywordSpinocerebellar ataxia type 8-
dc.subject.keywordCTG repeat-
dc.contributor.alternativeNameLee, Myung Sik-
dc.contributor.affiliatedAuthorLee, Myung Sik-
dc.rights.accessRightsfree-
dc.citation.volume1-
dc.citation.number2-
dc.citation.startPage90-
dc.citation.endPage92-
dc.identifier.bibliographicCitationJOURNAL OF MOVEMENT DISORDERS, Vol.1(2) : 90-92, 2008-
dc.identifier.rimsid34703-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
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