Ahmadi S, Wade-Martins R. Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model. Neurobiol Aging. 2014 Feb;35(2):443.e5-443.e16. PubMed.

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Mutations

  1. PSEN1 M146V
  2. PSEN1 C410Y