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dc.contributor.authorArboleda Velásquez, Joseph Fitzgerald-
dc.contributor.authorLopera Restrepo, Francisco Javier-
dc.contributor.authorLópez Alzate, María Elizabeth-
dc.contributor.authorFrosch, Matthew P.-
dc.contributor.authorSepúlveda Falla, Diego-
dc.contributor.authorGutiérrez, Juan E.-
dc.contributor.authorVargas, S.-
dc.contributor.authorÁlvarez Medina, María de Lourdes-
dc.contributor.authorMedina, M.-
dc.contributor.authorMartínez de Arrieta, C.-
dc.contributor.authorLebo, R. V.-
dc.contributor.authorSlaugenhaupt, S. A.-
dc.contributor.authorBetensky, Rebecca A.-
dc.contributor.authorSánchez Villegas, Almudena-
dc.contributor.authorArcos Burgos, Oscar Mauricio-
dc.contributor.authorRivera, D.-
dc.contributor.authorRestrepo Medrano, Juan Carlos-
dc.contributor.authorKosik, Kenneth S.-
dc.date.accessioned2021-11-29T16:31:11Z-
dc.date.available2021-11-29T16:31:11Z-
dc.date.issued2002-
dc.identifier.citationArboleda-Velasquez, J. F., Lopera, F., Lopez, E., Frosch, M. P., Sepulveda-Falla, D., Gutierrez, J. E., Vargas, S., Medina, M., Martinez De Arrieta, C., Lebo, R. V., Slaugenhaupt, S. A., Betensky, R. A., Villegas, A., Arcos-Burgos, M., Rivera, D., Restrepo, J. C., & Kosik, K. S. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology. [Online]. 2002. 59(2), 277–279. Available in: https://n.neurology.org/content/59/2/277spa
dc.identifier.issn0028-3878-
dc.identifier.urihttp://hdl.handle.net/10495/24425-
dc.description.abstractABSTRACT: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor–like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.spa
dc.format.extent3spa
dc.format.mimetypeapplication/pdfspa
dc.language.isoengspa
dc.publisherAmerican Academy of Neurologyspa
dc.publisherLippincott, Williams & Wilkinsspa
dc.type.hasversioninfo:eu-repo/semantics/publishedVersionspa
dc.rightsinfo:eu-repo/semantics/openAccessspa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/2.5/co/*
dc.titleC455R notch3 mutation in a Colombian CADASIL kindred with early onset of strokespa
dc.typeinfo:eu-repo/semantics/articlespa
dc.publisher.groupEmergencias y Desastresspa
dc.publisher.groupGenética Regeneración y Cáncerspa
dc.publisher.groupGrupo de Neurociencias de Antioquiaspa
dc.identifier.doi10.1212/WNL.59.2.277-
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85spa
dc.rights.accessrightshttp://purl.org/coar/access_right/c_abf2spa
dc.identifier.eissn1526-632X-
oaire.citationtitleNeurologyspa
oaire.citationstartpage277spa
oaire.citationendpage279spa
oaire.citationvolume59spa
oaire.citationissue2spa
dc.rights.creativecommonshttps://creativecommons.org/licenses/by-nc-nd/4.0/spa
dc.publisher.placeMinneapolis, Estados Unidosspa
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1spa
dc.type.redcolhttps://purl.org/redcol/resource_type/ARTspa
dc.type.localArtículo de investigaciónspa
dc.subject.decsReceptor Notch3-
dc.subject.decsReceptor, Notch3-
dc.subject.decsCADASIL-
dc.subject.decsAccidente Cerebrovascular-
dc.subject.decsStroke-
dc.description.researchgroupidCOL0023804spa
dc.description.researchgroupidCOL0006769spa
dc.description.researchgroupidCOL0010744spa
dc.relation.ispartofjournalabbrevNeurologyspa
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