Cited 0 times in
증례보고: Asp38Ala 돌연변이로 인한 비Val30Met TTR형의 가족성 아밀로이드 다발성신경병증
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 나동욱 | - |
dc.contributor.author | 박은숙 | - |
dc.contributor.author | 박천웅 | - |
dc.contributor.author | 조유나 | - |
dc.contributor.author | 최자영 | - |
dc.date.accessioned | 2018-11-02T16:40:12Z | - |
dc.date.available | 2018-11-02T16:40:12Z | - |
dc.date.issued | 2016 | - |
dc.identifier.issn | 2773-6581 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/165005 | - |
dc.description.abstract | There are three precursor proteins of amyloid inducing familial amyloid polyneuropathy (FAP): transthyretin (TTR), Apolipoprotein A-1, and Gelsolin. Abnormal TTR expression is most frequently discovered in FAP and the genotypes are correlated with clinical features. Since the substitution of methionine for valine at position 30 is most common gene mutation, TTR type FAP is divided into Val30Met type FAP and non-Val30Met type FAP. Asp38Ala mutation found in non-Val30Met type FAP usually accompanied the autonomic symptoms and only reported in male persons in Korea. We reported the clinical characteristics and disease progression of first Korean female person with Asp38Ala mutation who didn’t show autonomic symptoms. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | Journal of the Korean Association of EMG-Electrodiagnostic Medicine | - |
dc.publisher | Journal of the Korean Association of EMG-Electrodiagnostic Medicine | - |
dc.relation.isPartOf | Journal of the Korean Association of EMG-Electrodiagnostic Medicine | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 증례보고: Asp38Ala 돌연변이로 인한 비Val30Met TTR형의 가족성 아밀로이드 다발성신경병증 | - |
dc.title.alternative | Case Report: Non-Val30Met TTR Type Familial Amyloid Polyneuropathy with Asp38Ala Mutation | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Rehabilitation Medicine (재활의학교실) | - |
dc.contributor.googleauthor | 박천웅 | - |
dc.contributor.googleauthor | 박은숙 | - |
dc.contributor.googleauthor | 최자영 | - |
dc.contributor.googleauthor | 조유나 | - |
dc.contributor.googleauthor | 나동욱 | - |
dc.identifier.doi | 10.18214/jkaem.2016.18.1.28 | - |
dc.contributor.localId | A01230 | - |
dc.contributor.localId | A01611 | - |
dc.contributor.localId | A05341 | - |
dc.contributor.localId | A05519 | - |
dc.contributor.localId | A04170 | - |
dc.relation.journalcode | J01805 | - |
dc.identifier.eissn | 2733-659X | - |
dc.subject.keyword | amyloid neuropathies | - |
dc.subject.keyword | transthyretin-related amyloid fibril protein | - |
dc.contributor.alternativeName | Rha, Dong Wook | - |
dc.contributor.alternativeName | Park, Eun Sook | - |
dc.contributor.alternativeName | Park, Chunung | - |
dc.contributor.alternativeName | Cho, Yoona | - |
dc.contributor.alternativeName | Choi, Ja Young | - |
dc.contributor.affiliatedAuthor | 나동욱 | - |
dc.contributor.affiliatedAuthor | 박은숙 | - |
dc.contributor.affiliatedAuthor | 박천웅 | - |
dc.contributor.affiliatedAuthor | 조유나 | - |
dc.contributor.affiliatedAuthor | 최자영 | - |
dc.citation.volume | 18 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 28 | - |
dc.citation.endPage | 31 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Association of EMG-Electrodiagnostic Medicine, Vol.18(1) : 28-31, 2016 | - |
dc.identifier.rimsid | 58854 | - |
dc.type.rims | ART | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.