Jia L, Fu Y, Shen L, Zhang H, Zhu M, Qiu Q, Wang Q, Yan X, Kong C, Hao J, Wei C, Tang Y, Qin W, Li Y, Wang F, Guo D, Zhou A, Zuo X, Yu Y, Li D, Zhao L, Jin H, Jia J. PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease. Alzheimers Dement. 2020 Jan;16(1):178-191. PubMed.

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Mutations

  1. PSEN2 P287P
  2. PSEN1 N24S
  3. PSEN1 I100F
  4. PSEN1 P117T
  5. PSEN1 H131Q
  6. PSEN1 L172W
  7. PSEN2 c.*71C>A
  8. PSEN1 G78G
  9. PSEN1 V151V
  10. PSEN1 P218P
  11. PSEN1 T281T
  12. PSEN1 c.*9C>T
  13. PSEN2 G34S
  14. PSEN1 V97L
  15. PSEN1 F105I
  16. PSEN1 F105L
  17. PSEN1 M139V
  18. PSEN1 M146V
  19. PSEN1 H163R
  20. PSEN1 L173F (G>C)
  21. PSEN1 G206A
  22. PSEN1 I213T
  23. PSEN1 L282V
  24. PSEN2 R62H
  25. APP G708G
  26. PSEN2 V214L
  27. PSEN1 K311R
  28. PSEN1 R157S
  29. PSEN1 L173S
  30. PSEN1 G111V
  31. PSEN2 S236S
  32. PSEN2 M298T