Li N, Liu K, Qiu Y, Ren Z, Dai R, Deng Y, Qing H. Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. Front Aging Neurosci. 2016;8:51. Epub 2016 Mar 11 PubMed.

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Mutations

  1. PSEN1 I143V
  2. PSEN1 I143T
  3. PSEN1 M146V
  4. PSEN1 S170F
  5. PSEN1 Q223R
  6. PSEN1 M233V
  7. PSEN1 E280A (Paisa)
  8. PSEN1 G384A
  9. PSEN1 L392V
  10. PSEN1 L381V
  11. PSEN1 L166P
  12. PSEN1 H163P

News

  1. Umbilical Cord With Presenilin Mutation Births New Cell Model of Familial AD