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Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification

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dc.contributor.authorKim, Hee-Jin-
dc.contributor.authorKim, Hyun Young-
dc.contributor.authorKi, Chang-Seok-
dc.contributor.authorKim, Seung Hyun-
dc.date.accessioned2022-12-20T10:49:49Z-
dc.date.available2022-12-20T10:49:49Z-
dc.date.created2022-08-26-
dc.date.issued2010-12-
dc.identifier.issn1590-1874-
dc.identifier.urihttps://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/173362-
dc.description.abstractMutations 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.language영어-
dc.language.isoen-
dc.publisherSPRINGER-VERLAG ITALIA SRL-
dc.titlePresenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification-
dc.typeArticle-
dc.contributor.affiliatedAuthorKim, Hee-Jin-
dc.contributor.affiliatedAuthorKim, Hyun Young-
dc.contributor.affiliatedAuthorKim, Seung Hyun-
dc.identifier.doi10.1007/s10072-010-0233-5-
dc.identifier.scopusid2-s2.0-78650513283-
dc.identifier.wosid000284748700015-
dc.identifier.bibliographicCitationNEUROLOGICAL SCIENCES, v.31, no.6, pp.781 - 783-
dc.relation.isPartOfNEUROLOGICAL SCIENCES-
dc.citation.titleNEUROLOGICAL SCIENCES-
dc.citation.volume31-
dc.citation.number6-
dc.citation.startPage781-
dc.citation.endPage783-
dc.type.rimsART-
dc.type.docTypeArticle-
dc.description.journalClass1-
dc.description.isOpenAccessN-
dc.description.journalRegisteredClassscie-
dc.description.journalRegisteredClassscopus-
dc.relation.journalResearchAreaNeurosciences & Neurology-
dc.relation.journalWebOfScienceCategoryClinical Neurology-
dc.relation.journalWebOfScienceCategoryNeurosciences-
dc.subject.keywordPlusHETEROGENEITY-
dc.subject.keywordPlusPREVALENCE-
dc.subject.keywordAuthorEarly-onset Alzheimer&apos-
dc.subject.keywordAuthors disease-
dc.subject.keywordAuthorPresenilin 1-
dc.subject.keywordAuthorM139I-
dc.identifier.urlhttps://link.springer.com/article/10.1007/s10072-010-0233-5-
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