Wang G, Zhang DF, Jiang HY, Fan Y, Ma L, Shen Z, Bi R, Xu M, Tan L, Shan B, Yao YG, Feng T. Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease. J Psychiatr Res. 2019 Jun;113:141-147. Epub 2019 Mar 30 PubMed.

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Mutations

  1. PSEN1 L173S
  2. PSEN1 L262S
  3. PSEN2 A379D
  4. PSEN2 c.887-3C>T
  5. PSEN2 N141D
  6. APP R486W
  7. PSEN2 M298T
  8. PSEN1 G394V