Tanahashi H, Kawakatsu S, Kaneko M, Yamanaka H, Takahashi K, Tabira T. Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients. Neurosci Lett. 1996 Nov 1;218(2):139-41. PubMed.

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Mutations

  1. PSEN1 G384A
  2. PSEN1 H163R
  3. PSEN1 E280A (Paisa)