Anheim M, Hannequin D, Boulay C, Martin C, Campion D, Tranchant C. Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation. J Neurol Neurosurg Psychiatry. 2007 Dec;78(12):1414-5. PubMed.

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Mutations

  1. PSEN1 P117A