. Highly Pathogenic Alzheimer's Disease Presenilin 1 P117R Mutation Causes a specific Increase in p53 and p21 Protein Levels and Cell Cycle Dysregulation in Human Lymphocytes. J Alzheimers Dis. 2012 Jan 1;32(2):397-415. PubMed.

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Mutations

  1. PSEN1 P117R
  2. PSEN1 I213F
  3. PSEN1 E318G
  4. PSEN1 L226F