Takada LT, Brucki SM, Rodriguez RD, Smid J, Bahia VS, Chadi G, Nitrini R. Autosomal Dominant Early-Onset Alzheimer's Disease: Characterization of a Brazilian Cohort . Alzheimer's & Dementia, July 2017

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Mutations

  1. PSEN1 M146L (A>T)
  2. PSEN1 G209R
  3. PSEN1 G378E