Piccoli E, Rossi G, Rossi T, Pelliccioni G, D'Amato I, Tagliavini F, Di Fede G. Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing. Neurobiol Aging. 2016 Apr;40:192.e7-11. Epub 2016 Feb 28 PubMed.

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Mutations

  1. PSEN1 H214N
  2. PSEN1 R220P
  3. MAPT L410F
  4. MAPT P512H