Kumar-Singh S, Theuns J, Van Broeck B, Pirici D, Vennekens K, Corsmit E, Cruts M, Dermaut B, Wang R, Van Broeckhoven C. Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. Hum Mutat. 2006 Jul;27(7):686-95. PubMed.

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Mutations

  1. PSEN1 A79V
  2. PSEN1 S290_S319delinsC (ΔE9)
  3. PSEN1 S290_S319delinsC (ΔE9Finn)
  4. PSEN1 c.869-22_869-23ins18 (ΔE9)
  5. PSEN1 S290_S319delinsC G>A (ΔE9)
  6. PSEN1 S290_S319delinsC G>T (ΔE9)
  7. PSEN1 S290_S319delinsC A>G (ΔE9)

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