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X-linked Charcot-Marie-Tooth 환자에서 새로이 발견된 connexin32 유전자의 missense 돌연변이 Cys168Arg
DC Field | Value | Language |
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dc.contributor.author | 선우일남 | - |
dc.contributor.author | 최병옥 | - |
dc.date.accessioned | 2015-07-14T17:17:23Z | - |
dc.date.available | 2015-07-14T17:17:23Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 1225-7044 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/112585 | - |
dc.description.abstract | X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected males compared to that in affected female. A missense mutation, Cys168Arg, was found in connexin 32 gene (Cx32/GJB1) from a patient with CMTX neuropathy. The familial history of this patient also suggested that the disease is X-linked CMT. Thus, we report a CMTX family having the novel Cys168Arg mutation in the Cx32 gene. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 76~79 | - |
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 | X-linked Charcot-Marie-Tooth 환자에서 새로이 발견된 connexin32 유전자의 missense 돌연변이 Cys168Arg | - |
dc.title.alternative | X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | 최병옥 | - |
dc.contributor.googleauthor | 선우일남 | - |
dc.contributor.googleauthor | 정기화 | - |
dc.contributor.googleauthor | 황정희 | - |
dc.contributor.googleauthor | 이미선 | - |
dc.contributor.googleauthor | 최경규 | - |
dc.contributor.googleauthor | 김용재 | - |
dc.contributor.googleauthor | 박기덕 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.relation.journalcode | J01835 | - |
dc.subject.keyword | X-linked Charcot-Marie-Tooth (CMTX) | - |
dc.subject.keyword | Connexin 32 | - |
dc.subject.keyword | Missense mutation | - |
dc.contributor.alternativeName | Sunwoo, Il Nam | - |
dc.contributor.alternativeName | Choi, Byung Ok | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 22 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 76 | - |
dc.citation.endPage | 79 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association, Vol.22(1) : 76-79, 2004 | - |
dc.identifier.rimsid | 57762 | - |
dc.type.rims | ART | - |
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