Willumsen N, Arber C, Lovejoy C, Toombs J, Alatza A, Weston PS, Chávez-Gutiérrez L, Hardy J, Zetterberg H, Fox NC, Ryan NS, Lashley T, Wray S. The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue. Brain Commun. 2023;5(1):fcac321. Epub 2022 Dec 7 PubMed.

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Mutations

  1. PSEN1 M146I (G>A)
  2. PSEN1 M146I (G>C)
  3. PSEN1 M146I (G>T)