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Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene

DC Field Value Language
dc.contributor.author이, 성은-
dc.contributor.author홍, 윤희-
dc.contributor.author김, 동훈-
dc.contributor.author이, 진수-
dc.contributor.author김, 구환-
dc.contributor.author유, 한욱-
dc.contributor.author주, 인수-
dc.date.accessioned2014-02-25-
dc.date.available2014-02-25-
dc.date.issued2011-
dc.identifier.issn1225-7044-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/9464-
dc.description.abstractHereditary 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.isoko-
dc.titleAutosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene-
dc.title.alternativeSPAST유전자의 새로운 Thr369Pro돌연변이에 의한 보통염색체우성유전강직하반신마비-
dc.typeArticle-
dc.subject.keywordHereditary spastic paraplegia-
dc.subject.keywordMissense mutation-
dc.contributor.affiliatedAuthor이, 진수-
dc.contributor.affiliatedAuthor주, 인수-
dc.type.localJournal Papers-
dc.citation.titleJournal of the Korean Neurological Association-
dc.citation.volume29-
dc.citation.number4-
dc.citation.date2011-
dc.citation.startPage365-
dc.citation.endPage367-
dc.identifier.bibliographicCitationJournal of the Korean Neurological Association, 29(4). : 365-367, 2011-
dc.identifier.eissn2288-985X-
dc.relation.journalidJ112257044-
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Journal Papers > School of Medicine / Graduate School of Medicine > Neurology
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