Raux G, Guyant-Maréchal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet. 2005 Oct;42(10):793-5. Epub 2005 Jul 20 PubMed.

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Mutations

  1. PSEN1 F105I
  2. PSEN1 I143N
  3. PSEN1 G206S
  4. PSEN1 G206D
  5. PSEN1 H214Y
  6. PSEN1 F386S
  7. PSEN1 V391F
  8. PSEN1 L424H
  9. PSEN1 T116N
  10. PSEN1 T116I
  11. PSEN1 I143T
  12. PSEN1 M233T
  13. PSEN1 P264L
  14. PSEN1 E280G
  15. PSEN1 L392V