Article
Polymorphic tetranucleotide repeat site within intron 7 of the beta-amyloid precursor protein gene and its lack of association with Alzheimer's disease.
Human genetics - 1 Jul 1998
Li L, Perry R, Wu J, Pham D, Ohman T, Harrell L E, Go R C, Fukuchi K
Abstract excerpt
Mutations found in the beta-amyloid precursor protein (APP) gene in a small subset of patients with Alzheimer's disease (AD) are associated with the development of the disease. Several lines of evidence indicate that specific isoforms of APP generated by alternative splicing of the primary transcript may contribute to the etiology of AD. One of the isoforms, APP695, lacks the Kunitz protease inhibitor (KPI)...
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