Pagnon de la Vega M, Näslund C, Brundin R, Lannfelt L, Löwenmark M, Kilander L, Ingelsson M, Giedraitis V. Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia. BMC Genomics. 2022 Feb 4;23(1):99. PubMed.

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Mutations

  1. PSEN1 M146V
  2. APP F690_V695del (Uppsala deletion)