. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 1995 Jun 29;375(6534):754-60. PubMed.

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Mutations

  1. PSEN1 M146L (A>C)
  2. PSEN1 H163R
  3. PSEN1 A246E
  4. PSEN1 C410Y
  5. PSEN1 L286V
  6. PSEN1 V82L