Arber C, Belder CR, Tomczuk F, Gabriele R, Buhidma Y, Farrell C, O'Connor A, Rice H, Lashley T, Fox NC, Ryan NS, Wray S. The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations. Alzheimers Dement. 2024 Jul;20(7):4717-4726. Epub 2024 Jun 2 PubMed.

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Mutations

  1. PSEN1 P436S