Article
Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.
Annals of neurology - 1 Aug 2003
Pastor Pau, Roe Catherine M, Villegas Andrés, Bedoya Gabriel, Chakraverty Sumi, García Gloria, Tirado Victoria, Norton Joanne, Ríos Silvia, Martínez Maribel, Kosik Kenneth S, Lopera Francisco, Goate Alison M
Abstract excerpt
We previously have identified a large kindred from Colombia in which Alzheimer's disease (AD) is caused by the E280A presenilin 1 (PS1) mutation. The objective of this study was to examine whether environmental and genetic factors are responsible for variation in the phenotypic expression of the E280A PS1 mutation. We genotyped coding and promoter polymorphisms of the APOE gene in carriers of the E280A PS1...
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