Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R. C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. Am J Neurodegener Dis. 2012;1(1):107-18. Epub 2012 May 16 PubMed.

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Mutations

  1. PSEN1 P218L
  2. PSEN2 F183S
  3. PSEN1 I238M
  4. PSEN2 S130L
  5. PSEN2 M174V