Article
Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population.
Neurobiology of aging - 1 May 2013
Kero Mia, Paetau Anders, Polvikoski Tuomo, Tanskanen Maarit, Sulkava Raimo, Jansson Lilja, Myllykangas Liisa, Tienari Pentti J
Abstract excerpt
Pathogenic mutations of the APP gene, leading to early-onset Alzheimer's disease (AD) have been known for more than 20 years. Recently, it was discovered that APP mutations might also be protective. A rare variant A673T reportedly protects against AD and age-related cognitive impairment and might functionally inhibit proteolytic cleavage at the β-secretase site of APP. We sequenced APP exon 16 in a...
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