Kim YE, Cho H, Kim HJ, Na DL, Seo SW, Ki CS. PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease. Sci Rep. 2020 Feb 26;10(1):3480. PubMed.

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Mutations

  1. PSEN1 Y389S
  2. PSEN1 L282P
  3. PSEN1 Y389H
  4. PSEN1 Y159C
  5. PSEN1 A285S
  6. PSEN1 E120K
  7. PSEN1 S170F
  8. PSEN1 T119I