Perrone F, Bjerke M, Hens E, Sieben A, Timmers M, De Roeck A, Vandenberghe R, Sleegers K, Martin JJ, De Deyn PP, Engelborghs S, van der Zee J, Van Broeckhoven C, Cacace R, BELNEU Consortium. Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations. Alzheimers Res Ther. 2020 Sep 11;12(1):108. PubMed.

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Mutations

  1. PSEN1 P49L
  2. PSEN1 G371C
  3. PSEN2 T153S
  4. PSEN2 I149T
  5. PSEN2 R62C
  6. PSEN1 A79V
  7. PSEN1 G183V
  8. PSEN1 C263F
  9. PSEN1 R269H
  10. PSEN1 E318G
  11. PSEN2 R62H
  12. PSEN2 S130L
  13. PSEN1 D40del (delGAC)
  14. PSEN1 D40del (delACG)
  15. PSEN1 P355S