Bisceglia P, Lo Vecchio F, Latino RR, Gravina C, Urbano M, la Torre A, Desina G, Greco A, Leone M, Antonioni A. Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G). Neurol Int. 2022 May 16;14(2):417-422. PubMed.

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Mutations

  1. PSEN1 E318G