Sandbrink R, Zhang D, Schaeffer S, Masters CL, Bauer J, Förstl H, Beyreuther K. Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients. Ann Neurol. 1996 Aug;40(2):265-6. PubMed.

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Mutations

  1. PSEN1 E318G
  2. PSEN1 M139V