Testi S, Peluso S, Fabrizi GM, Antenora A, Russo CV, Pappatà S, Padovani A, Ferrarini M, Filla A. A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia. J Alzheimers Dis. 2014;41(3):709-14. PubMed.

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Mutations

  1. PSEN1 T147P