. Potential link between amyloid beta-protein 42 and C-terminal fragment gamma 49-99 of beta-amyloid precursor protein. J Biol Chem. 2003 Jul 4;278(27):24294-301. PubMed.

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Mutations

  1. PSEN1 M146L (A>C)
  2. PSEN1 M146L (A>T)
  3. PSEN1 M233T