Cho YY, Kwon OH, Park MK, Kim TW, Chung S. Elevated cellular cholesterol in Familial Alzheimer's presenilin 1 mutation is associated with lipid raft localization of β-amyloid precursor protein. PLoS One. 2019;14(1):e0210535. Epub 2019 Jan 25 PubMed.

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Mutations

  1. PSEN1 S290_S319delinsC (ΔE9)
  2. PSEN1 S290_S319delinsC (ΔE9Finn)
  3. PSEN1 c.869-22_869-23ins18 (ΔE9)
  4. PSEN1 S290_S319delinsC G>A (ΔE9)
  5. PSEN1 S290_S319delinsC G>T (ΔE9)
  6. PSEN1 S290_S319delinsC A>G (ΔE9)
  7. PSEN1 c.856+3089_943+467del (ΔE9)