Brooks WS, Kwok JB, Kril JJ, Broe GA, Blumbergs PC, Tannenberg AE, Lamont PJ, Hedges P, Schofield PR. Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions. Brain. 2003 Apr;126(Pt 4):783-91. PubMed.

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Mutations

  1. PSEN1 S290_S319delinsC G>A (ΔE9)
  2. PSEN1 S290_S319delinsC G>T (ΔE9)