Jiang B, Zhou J, Li HL, Chen YG, Cheng HR, Ye LQ, Liu DS, Chen DF, Tao QQ, Wu ZY. 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. APP K687Q
  3. APP D244G
  4. APP T297M
  5. APP D332G
  6. APP G342S
  7. PSEN1 M139I (G>A)
  8. PSEN1 T147I
  9. PSEN1 L173W
  10. PSEN1 F177S
  11. PSEN1 R269H