Article
Polymorphisms in the promoter of the human APP gene: functional evaluation and allele frequencies in Alzheimer disease.
Archives of neurology - 1 Nov 2002
Athan Eleni S, Lee Joseph H, Arriaga Alex, Mayeux Richard P, Tycko Benjamin
Abstract excerpt
BACKGROUND: Missense mutations in the amyloid precursor protein (APP) gene cause early-onset Alzheimer disease (AD). However, little is known regarding the effects of polymorphisms in regulatory sequences of APP on AD susceptibility. OBJECTIVES: To identify polymorphisms in the APP promoter, to test these for associations with AD, and to assess their influence on APP promoter activity in transfected cells....
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