Shea YF, Chan AO, Chu LW, Lee SC, Law CY, See CH, Yiu KL, Chiu PK. Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease. Neurobiol Aging. 2017 Feb;50:168.e9-168.e11. Epub 2016 Oct 15 PubMed.

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Mutations

  1. PSEN1 F386I
  2. PSEN1 F386S
  3. PSEN1 F386L