title: Novel polymorphism in the A4 region of the amyloid precursor protein gene in a patient without Alzheimer's disease.
abstract: We found a novel polymorphism in the amyloid precursor protein (APP) gene in a patient with ischemic cerebrovascular disease who had no evidence of Alzheimer's disease (AD). This polymorphism deletes a Fok I restriction enzyme site and causes the substitution of threonine for alanine at codon 673. This is adjacent to the site at which APP is thought to undergo cleavage in AD. Analysis of this polymorphism may provide insight into the basis of APP processing.
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor.
authors.forename: M L
authors.initials: ML
authors.lastname: Peacock
authors.forename: J T
authors.initials: JT
authors.lastname: Warren
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
authors.forename: J K
authors.initials: JK
authors.lastname: Fink
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis* / Q000209:etiology; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D002561:Cerebrovascular Disorders / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic; D012016:Reference Values
chemical_list: D016564:Amyloid beta-Protein Precursor