Ahmadi S, Wade-Martins R. Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model. Neurobiol Aging. 2014 Feb;35(2):443.e5-443.e16. PubMed.

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Mutations

  1. PSEN1 M146V
  2. PSEN1 C410Y
  3. PSEN1 S290_S319delinsC (ΔE9)
  4. PSEN1 S290_S319delinsC (ΔE9Finn)
  5. PSEN1 c.869-22_869-23ins18 (ΔE9)
  6. PSEN1 S290_S319delinsC G>A (ΔE9)
  7. PSEN1 S290_S319delinsC G>T (ΔE9)
  8. PSEN1 S290_S319delinsC A>G (ΔE9)
  9. PSEN1 c.856+3089_943+467del (ΔE9)