Mann DM, Takeuchi A, Sato S, Cairns NJ, Lantos PL, Rossor MN, Haltia M, Kalimo H, Iwatsubo T. Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques. Neuropathol Appl Neurobiol. 2001 Jun;27(3):189-96. PubMed.

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Mutations

  1. PSEN1 S290_S319delinsC G>A (ΔE9)