Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/45024
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dc.contributor.authorMurrell, J.
dc.contributor.authorGhetti, B.
dc.contributor.authorCochran, E.
dc.contributor.authorMacias-Islas, M.A.
dc.contributor.authorMedina, L.
dc.contributor.authorVarpetian, A.
dc.contributor.authorCummings, J.L.
dc.contributor.authorMendez, M.F.
dc.contributor.authorKawas, C.
dc.contributor.authorChui, H.
dc.contributor.authorRingman, J.M.
dc.date.accessioned2015-09-15T19:05:35Z-
dc.date.available2015-09-15T19:05:35Z-
dc.date.issued2006
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-33750037617&partnerID=40&md5=2d671fc5f0bfee44d8e0187e6baa26b6
dc.identifier.urihttp://hdl.handle.net/20.500.12104/45024-
dc.description.abstractNine families with autosomal dominant Alzheimer's disease (AD), all of whom had the Ala431Glu substitution in the PSEN1 gene and came from Jalisco State in Mexico, have been previously reported. As they shared highly polymorphic flanking dinucleotide marker alleles, this strongly suggests that this mutation arose from a common founder. In the current letter, we expand this observation by describing an additional 15 independent families with the Ala431Glu substitution in the PSEN1 gene and conclude that this mutation is not an uncommon cause of early-onset autosomal dominant AD in persons of Mexican origin. � Springer-Verlag 2006.
dc.relation.isreferencedbyScopus
dc.relation.isreferencedbyWOS
dc.titleThe A431E mutation in PSEN1 causing Familial Alzheimer's Disease originating in Jalisco State, Mexico: An additional fifteen families
dc.typeArticle
dc.identifier.doi10.1007/s10048-006-0053-1
dc.relation.ispartofjournalNeurogenetics
dc.relation.ispartofvolume7
dc.relation.ispartofissue4
dc.relation.ispartofpage277
dc.relation.ispartofpage279
dc.subject.keywordA431E; Ala431Glu; Alzheimer's disease; Founder effect; Mexican; Presenilin-1
dc.contributor.affiliationMurrell, J., Department of Pathology and Laboratory Medicine, University of Indiana Medical School, MS A128, 635 Barnhill Drive, Indianapolis, IN 46202-5126, United States; Ghetti, B., Department of Pathology and Laboratory Medicine, University of Indiana Medical School, MS A128, 635 Barnhill Drive, Indianapolis, IN 46202-5126, United States; Cochran, E., Departments of Pathology and Neurological Sciences, Rush-Presbyterian-St. Luke's Medical Center, Chicago, IL, United States; Macias-Islas, M.A., Neurosciences Department, CUCS, University of Guadalajara, Beethoven 5216-1, Zapopan, Jalisco, C.P. 45030, Mexico; Medina, L., UCLA Department of Neurology, Alzheimer's Disease Research Center, 710 Westwood Plaza, Los Angeles, CA 90095-1769, United States; Varpetian, A., Department of Neurology, Keck School of Medicine, University of Southern California, 7601 Imperial Hwy, Downey, CA 90242-3456, United States; Cummings, J.L., UCLA Department of Neurology, Alzheimer's Disease Research Center, 710 Westwood Plaza, Los Angeles, CA 90095-1769, United States, Psychiatry and Biobehavioral Science, University of California, C8-827 NPI, 175919, Los Angeles, CA 90095, United States; Mendez, M.F., UCLA Department of Neurology, Alzheimer's Disease Research Center, 710 Westwood Plaza, Los Angeles, CA 90095-1769, United States; Kawas, C., Departments of Neurology, Neurobiology and Behavior, University of California, Irvine, Gillespie Neuroscience Research Facility, Irvine, CA 92697-4540, United States; Chui, H., Department of Neurology, Keck School of Medicine, University of Southern California, 7601 Imperial Hwy, Downey, CA 90242-3456, United States; Ringman, J.M., UCLA Department of Neurology, Alzheimer's Disease Research Center, 710 Westwood Plaza, Los Angeles, CA 90095-1769, United States
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