Alzheimer's Disease Collaborative Group. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet. 1995 Oct;11(2):219-22. PubMed.

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Mutations

  1. PSEN1 M139V
  2. PSEN1 M146L (A>C)
  3. PSEN1 M146V
  4. PSEN1 H163Y
  5. PSEN1 P267S
  6. PSEN1 E280A (Paisa)
  7. PSEN1 E280G

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