Kakuda N, Takami M, Okochi M, Kasuga K, Ihara Y, Ikeuchi T. Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation. Transl Psychiatry. 2021 Nov 3;11(1):558. PubMed.

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Mutations

  1. PSEN1 A79V
  2. PSEN1 L85P
  3. PSEN1 I143T
  4. PSEN1 M146L (A>C)
  5. PSEN1 M146L (A>T)
  6. PSEN1 H163R
  7. PSEN1 L173F (G>C)
  8. PSEN1 G206V
  9. PSEN1 G209R
  10. PSEN1 I213T
  11. PSEN1 M233L (A>C)
  12. PSEN1 M233L (A>T)
  13. PSEN1 C263F
  14. PSEN1 E273A
  15. PSEN1 E280A (Paisa)
  16. PSEN1 G384A
  17. PSEN1 A409T
  18. PSEN1 L381V
  19. PSEN1 L286V
  20. PSEN1 L166P
  21. PSEN1 L173F (G>T)