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새로 발견된 PMP22 유전자의 Frame Shift 돌연변이(Ala106fs)를 보인 Charcot-Marie-Tooth 1A
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김승민 | - |
dc.contributor.author | 선우일남 | - |
dc.date.accessioned | 2015-07-14T17:00:40Z | - |
dc.date.available | 2015-07-14T17:00:40Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 1225-7044 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/112028 | - |
dc.description.abstract | Charcot-Marie-Tooth disease (CMT) with hearing impairment is a clinically distinct rare entity described in a few families, usually with a demyelinating neuropathy. The molecular basis for this disease has not been established with certainty. Audiological evaluation has revealed auditory neuropathy in the affected individual. We report a CMT1A family with sensorineural hearing loss and a novel frame shift mutation Ala106fs (318delT) in the PMP22 gene. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 673~676 | - |
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 | 새로 발견된 PMP22 유전자의 Frame Shift 돌연변이(Ala106fs)를 보인 Charcot-Marie-Tooth 1A | - |
dc.title.alternative | Charcot-Marie-Tooth type 1A Patient with a Novel Frame Shift Mutation (Ala106fs) in the PMP22 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 | 정기화 | - |
dc.contributor.googleauthor | 선우일남 | - |
dc.contributor.googleauthor | 이미선 | - |
dc.contributor.googleauthor | 김용성 | - |
dc.contributor.googleauthor | 김승민 | - |
dc.contributor.googleauthor | 최경규 | - |
dc.contributor.googleauthor | 박기덕 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.relation.journalcode | J01835 | - |
dc.subject.keyword | CMT1A | - |
dc.subject.keyword | PMP22 | - |
dc.subject.keyword | Deafness | - |
dc.subject.keyword | Frame shift mutation | - |
dc.contributor.alternativeName | Kim, Seung Min | - |
dc.contributor.alternativeName | Sunwoo, Il Nam | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 22 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 673 | - |
dc.citation.endPage | 676 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association, Vol.22(6) : 673-676, 2004 | - |
dc.identifier.rimsid | 52896 | - |
dc.type.rims | ART | - |
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