. 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 S290C;T291_S319del G>A (ΔE9)
  2. PSEN1 S290C;T291_S319del G>T (ΔE9)