Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 구혜수 | - |
dc.contributor.author | 유정현 | - |
dc.date.accessioned | 2016-08-28T11:08:37Z | - |
dc.date.available | 2016-08-28T11:08:37Z | - |
dc.date.issued | 2014 | - |
dc.identifier.issn | 1364-6753 | - |
dc.identifier.other | OAK-11697 | - |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/228055 | - |
dc.description.abstract | C10orf2; Infantile-onset spinocerebellar ataxia (IOSCA); Mitochondria; Myopathy; Neuropathy; Whole exome sequencing (WES) | - |
dc.language | English | - |
dc.publisher | Springer Verlag | - |
dc.title | Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy | - |
dc.type | Article | - |
dc.relation.issue | 3 | - |
dc.relation.volume | 15 | - |
dc.relation.index | SCIE | - |
dc.relation.index | SCOPUS | - |
dc.relation.startpage | 171 | - |
dc.relation.lastpage | 182 | - |
dc.relation.journaltitle | Neurogenetics | - |
dc.identifier.doi | 10.1007/s10048-014-0405-1 | - |
dc.identifier.wosid | WOS:000339892700005 | - |
dc.identifier.scopusid | 2-s2.0-84904569525 | - |
dc.author.google | Park M.-H. | - |
dc.author.google | Woo H.-M. | - |
dc.author.google | Hong Y.B. | - |
dc.author.google | Park J.H. | - |
dc.author.google | Yoon B.R. | - |
dc.author.google | Park J.-M. | - |
dc.author.google | Yoo J.H. | - |
dc.author.google | Koo H. | - |
dc.author.google | Chae J.-H. | - |
dc.author.google | Chung K.W. | - |
dc.author.google | Choi B.-O. | - |
dc.author.google | Koo S.K. | - |
dc.contributor.scopusid | 구혜수(7102121023;57217717081;56612832400) | - |
dc.contributor.scopusid | 유정현(35239103600) | - |
dc.date.modifydate | 20230210131641 | - |