Palmieri I, Valente M, Farina LM, Gana S, Minafra B, Zangaglia R, Pansarasa O, Sproviero D, Costa A, Pacchetti C, Pichiecchio A, Gagliardi S, Cereda C. PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype. Int J Mol Sci. 2021 Apr 8;22(8) PubMed.

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Mutations

  1. PSEN1 S357Ter
  2. PSEN1 R377W