Blauwendraat C, Wilke C, Jansen IE, Schulte C, Simón-Sánchez J, Metzger FG, Bender B, Gasser T, Maetzler W, Rizzu P, Heutink P, Synofzik M. Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiol Aging. 2016 Jan;37:208.e11-7. Epub 2015 Sep 30 PubMed.

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Mutations

  1. PSEN2 L238P
  2. PSEN2 P348L
  3. PSEN2 T18M
  4. APP I716M
  5. PSEN2 N141I
  6. PSEN1 S290_S319delinsC A>G (ΔE9)