E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

A single base substitution of a glutamic acid to an alanine codon 280 was found in the presenilin‐1 (PS‐1) gene on chromosome 14 in affected individuals in each of seven Colombian early‐onset Alzheimer's disease (AD) kindreds. The mutation segregated with disease in kindreds tested. In the larg...

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Veröffentlicht in:	Human mutation 1997, Vol.10 (3), p.186-195
Hauptverfasser:	Lendon, Corinne L., Martinez, Alonso, Behrens, Isabel Maria, Kosik, Kenneth S., Madrigal, Lucia, Norton, Joanne, Neuman, Rosalind, Myers, Amanda, Busfield, Frances, Wragg, Michelle, Arcos, Mauricio, Viana, Juan Carlos Arango, Ossa, Jorge, Ruiz, Andres, Goate, Alison M., Lopera, Francisco
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Alleles Alzheimer Disease - epidemiology Alzheimer Disease - genetics Alzheimer's disease apolipoprotein E Apolipoproteins E - genetics DNA - blood DNA Mutational Analysis Founder Effect Genetic Linkage Genotype Haplotypes Humans Membrane Proteins - genetics Middle Aged mutation Pedigree Phenotype Point Mutation Presenilin-1 Sequence Analysis, DNA
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