Dumanchin C, Tournier I, Martin C, Didic M, Belliard S, Carlander B, Rouhart F, Duyckaerts C, Pellissier JF, Latouche JB, Hannequin D, Frebourg T, Tosi M, Campion D. Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. Hum Mutat. 2006 Oct;27(10):1063. PubMed.

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Mutations

  1. PSEN1 T291P
  2. PSEN1 c.869-22_869-23ins18 (ΔE9)
  3. PSEN1 P264L
  4. PSEN1 L271V
  5. PSEN1 E280G
  6. PSEN1 F386S

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