Piscopo P, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A. A novel PSEN2 mutation associated with a peculiar phenotype. Neurology. 2008 Apr 22;70(17):1549-54. PubMed.

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Mutations

  1. PSEN2 A85V