Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification
DC Field | Value | Language |
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dc.contributor.author | Kim, Hee-Jin | - |
dc.contributor.author | Kim, Hyun Young | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.contributor.author | Kim, Seung Hyun | - |
dc.date.accessioned | 2022-12-20T10:49:49Z | - |
dc.date.available | 2022-12-20T10:49:49Z | - |
dc.date.created | 2022-08-26 | - |
dc.date.issued | 2010-12 | - |
dc.identifier.issn | 1590-1874 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/173362 | - |
dc.description.abstract | Mutations in the presenilin 1 (PSEN1) gene are more commonly identified as genetic causes of early-onset familial Alzheimer's disease than mutations in the amyloid precursor protein (APP) and the presenilin 2 (PSEN2) genes. More than 100 different mutations in the PSEN1 gene have been detected, and the clinical phenotypes have been described in the literature. This paper reports the case of a 38-year-old female showing early memory impairment and having a base pair mutation from guanine (G) to cytosine (C) at codon 139 of PSEN1, which leads to the substitution of a methionine with an isoleucine. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | SPRINGER-VERLAG ITALIA SRL | - |
dc.title | Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Kim, Hee-Jin | - |
dc.contributor.affiliatedAuthor | Kim, Hyun Young | - |
dc.contributor.affiliatedAuthor | Kim, Seung Hyun | - |
dc.identifier.doi | 10.1007/s10072-010-0233-5 | - |
dc.identifier.scopusid | 2-s2.0-78650513283 | - |
dc.identifier.wosid | 000284748700015 | - |
dc.identifier.bibliographicCitation | NEUROLOGICAL SCIENCES, v.31, no.6, pp.781 - 783 | - |
dc.relation.isPartOf | NEUROLOGICAL SCIENCES | - |
dc.citation.title | NEUROLOGICAL SCIENCES | - |
dc.citation.volume | 31 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 781 | - |
dc.citation.endPage | 783 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.relation.journalWebOfScienceCategory | Neurosciences | - |
dc.subject.keywordPlus | HETEROGENEITY | - |
dc.subject.keywordPlus | PREVALENCE | - |
dc.subject.keywordAuthor | Early-onset Alzheimer&apos | - |
dc.subject.keywordAuthor | s disease | - |
dc.subject.keywordAuthor | Presenilin 1 | - |
dc.subject.keywordAuthor | M139I | - |
dc.identifier.url | https://link.springer.com/article/10.1007/s10072-010-0233-5 | - |
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