Mao C, Li J, Dong L, Huang X, Lei D, Wang J, Chu S, Liu C, Peng B, Román GC, Cui L, Gao J. Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort. Curr Alzheimer Res. 2021;18(3):265-272. PubMed.

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Mutations

  1. PSEN2 M239T
  2. PSEN2 N141S
  3. PSEN2 G117Ter
  4. PSEN2 I146T
  5. PSEN2 S147N
  6. PSEN2 H220Y
  7. PSEN2 I368F
  8. PSEN2 R62C
  9. PSEN1 R35Q
  10. PSEN1 W165C (G>C)
  11. PSEN1 L286V
  12. PSEN1 K311R
  13. PSEN1 H214R
  14. PSEN2 M298T