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Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
DC Field | Value | Language |
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dc.contributor.author | 이, 성은 | - |
dc.contributor.author | 홍, 윤희 | - |
dc.contributor.author | 김, 동훈 | - |
dc.contributor.author | 이, 진수 | - |
dc.contributor.author | 김, 구환 | - |
dc.contributor.author | 유, 한욱 | - |
dc.contributor.author | 주, 인수 | - |
dc.date.accessioned | 2014-02-25 | - |
dc.date.available | 2014-02-25 | - |
dc.date.issued | 2011 | - |
dc.identifier.issn | 1225-7044 | - |
dc.identifier.uri | http://repository.ajou.ac.kr/handle/201003/9464 | - |
dc.description.abstract | Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense mutation [c.1105A>C (p.Thr369Pro)] of SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in exon 8, and results in a heterozygote of the c.1105A>C mutation. It is likely that the mutation of exon 8 leads to spastin dysfunction and causes the typical symptoms and signs of HSP. | - |
dc.language.iso | ko | - |
dc.title | Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene | - |
dc.title.alternative | SPAST유전자의 새로운 Thr369Pro돌연변이에 의한 보통염색체우성유전강직하반신마비 | - |
dc.type | Article | - |
dc.subject.keyword | Hereditary spastic paraplegia | - |
dc.subject.keyword | Missense mutation | - |
dc.contributor.affiliatedAuthor | 이, 진수 | - |
dc.contributor.affiliatedAuthor | 주, 인수 | - |
dc.type.local | Journal Papers | - |
dc.citation.title | Journal of the Korean Neurological Association | - |
dc.citation.volume | 29 | - |
dc.citation.number | 4 | - |
dc.citation.date | 2011 | - |
dc.citation.startPage | 365 | - |
dc.citation.endPage | 367 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association, 29(4). : 365-367, 2011 | - |
dc.identifier.eissn | 2288-985X | - |
dc.relation.journalid | J112257044 | - |
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