Article
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
Human mutation - 1 Jan 1997
Lendon C L, Martinez A, Behrens I M, Kosik K S, Madrigal L, Norton J, Neuman R, Myers A, Busfield F, Wragg M, Arcos M, Arango Viana J C, Ossa J, Ruiz A, Goate A M, Lopera F
Abstract excerpt
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 largest kindred (C2), the maximum two-point lod score between the mutation and AD was Z = 8.14 at theta = 0. The presence of...
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