Eryilmaz IE, Bakar M, Egeli U, Cecener G, Yurdacan B, Colak DK, Tunca B. Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort. Alzheimer Dis Assoc Disord. 2021 Jul-Sep 01;35(3):214-222. PubMed.

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Mutations

  1. PSEN2 A23A
  2. PSEN2 N43N
  3. PSEN1 L364P
  4. PSEN1 G183V
  5. PSEN1 L219P
  6. PSEN1 E318G
  7. PSEN1 T274K