Wong TH, Seelaar H, Melhem S, Rozemuller AJ, van Swieten JC. Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations. Neurobiol Aging. 2020 Feb;86:201.e9-201.e14. Epub 2019 Jan 29 PubMed.

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Mutations

  1. PSEN2 A415S
  2. PSEN2 M174I