Hsu S, Gordon BA, Hornbeck R, Norton JB, Levitch D, Louden A, Ziegemeier E, Laforce R Jr, Chhatwal J, Day GS, McDade E, Morris JC, Fagan AM, Benzinger TL, Goate AM, Cruchaga C, Bateman RJ, Dominantly Inherited Alzheimer Network (DIAN), Karch CM. Discovery and validation of autosomal dominant Alzheimer's disease mutations. Alzheimers Res Ther. 2018 Jul 18;10(1):67. PubMed.

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Mutations

  1. APP T719N
  2. PSEN1 Q127_R128delinsG
  3. PSEN1 A396T
  4. PSEN2 L238F
  5. PSEN1 M84V
  6. PSEN2 R284G
  7. PSEN1 V103_S104delinsG
  8. PSEN1 A275T
  9. PSEN1 K395I
  10. PSEN1 I414T
  11. PSEN1 P264S