. Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing. Neurobiol Aging. 2019 Apr;76:215.e15-215.e21. Epub 2018 Dec 6 PubMed.

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Mutations

  1. PSEN1 R157S
  2. PSEN1 M139I (G>A)
  3. PSEN1 T147I
  4. PSEN1 L173W
  5. PSEN1 F177S
  6. PSEN1 R269H