. Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am J Pathol. 2001 Jun;158(6):2165-75. PubMed.

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Mutations

  1. PSEN1 T116R
  2. PSEN1 E120D (A>C)
  3. PSEN1 E120D (A>T)