Campion D, Flaman JM, Brice A, Hannequin D, Dubois B, Martin C, Moreau V, Charbonnier F, Didierjean O, Tardieu S. Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Hum Mol Genet. 1995 Dec;4(12):2373-7. PubMed.

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Mutations

  1. PSEN1 V82L
  2. PSEN1 Y115H
  3. PSEN1 M139T
  4. PSEN1 H163R
  5. PSEN1 A231T
  6. PSEN1 P264L
  7. PSEN1 L392V
  8. PSEN1 C410Y