Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.

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Mutations

  1. PSEN1 R35Q
  2. PSEN1 I143T
  3. PSEN1 Y156delinsFIY
  4. PSEN1 F177L
  5. PSEN1 F177S
  6. PSEN1 S178P
  7. PSEN1 G206S
  8. PSEN1 G206A
  9. PSEN1 G209E
  10. PSEN1 Q222R
  11. PSEN1 V261F
  12. PSEN1 T274R
  13. PSEN1 R352dup
  14. PSEN1 R358Q
  15. PSEN1 S365Y
  16. PSEN1 G394V
  17. PSEN1 L418F
  18. PSEN1 A431E
  19. PSEN1 L435F
  20. PSEN1 I439V
  21. PSEN1 T354I
  22. PSEN1 M146I (G>T)
  23. PSEN1 I213L
  24. PSEN1 A79V
  25. PSEN1 Y115C
  26. PSEN1 T116N
  27. PSEN1 M146L (A>C)
  28. PSEN1 M146V
  29. PSEN1 M233L (A>C)
  30. PSEN1 L235P
  31. PSEN1 L113_I114insT (Intron 4)

News

  1. Late- and Early Onset AD—Not So Distant at Genetic Level