Lohmann E, Guerreiro RJ, Erginel-Unaltuna N, Gurunlian N, Bilgic B, Gurvit H, Hanagasi HA, Luu N, Emre M, Singleton A. Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiol Aging. 2012 Aug;33(8):1850.e17-27. PubMed.

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Mutations

  1. PSEN1 L262V
  2. PSEN1 L134R
  3. PSEN1 A396T
  4. PSEN1 H163R
  5. PSEN1 H214Y
  6. PSEN1 P264L
  7. PSEN2 R62H
  8. PSEN2 R71W
  9. PSEN2 S130L
  10. PSEN2 M174V