Lleó A, Blesa R, Queralt R, Ezquerra M, Molinuevo JL, Peña-Casanova J, Rojo A, Oliva R. Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Arch Neurol. 2002 Nov;59(11):1759-63. PubMed.

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Mutations

  1. PSEN1 V89L (G>T)
  2. PSEN1 M139T
  3. PSEN1 L166R
  4. PSEN2 T430M
  5. PSEN2 D439A