Willumsen N, Poole T, Nicholas JM, Fox NC, Ryan NS, Lashley T. Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease. Brain Pathol. 2022 May;32(3):e13009. Epub 2021 Jul 28 PubMed.

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Mutations

  1. PSEN1 M139V
  2. PSEN1 M146I (G>A)
  3. PSEN1 M146I (G>C)
  4. PSEN1 E184D
  5. PSEN1 R278I
  6. PSEN1 L113_I114insT (Intron 4)
  7. PSEN1 M146I (G>T)