. Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease. J Neural Transm (Vienna). 2015 Dec;122(12):1715-9. Epub 2015 Sep 8 PubMed.

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Mutations

  1. PSEN1 A246P
  2. PSEN1 A164V
  3. PSEN1 I238_K239insI