Boteva K, Vitek M, Mitsuda H, de Silva H, Xu PT, Small G, Gilbert JR. Mutation analysis of presenillin 1 gene in Alzheimer's disease. Lancet. 1996 Jan 13;347(8994):130-1. PubMed.

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Mutations

  1. PSEN1 M139I (G>A)
  2. PSEN1 M139V
  3. PSEN1 H163R