Rupp C, Beyreuther K, Maurer K, Kins S. A presenilin 1 mutation in the first case of Alzheimer's disease: revisited. Alzheimers Dement. 2014 Nov;10(6):869-72. Epub 2014 Aug 15 PubMed.

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Mutations

  1. PSEN2 N141I
  2. PSEN1 F176L