Ezquerra M, Carnero C, Blesa R, Gelpí JL, Ballesta F, Oliva R. A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. Neurology. 1999 Feb;52(3):566-70. PubMed.

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Mutations

  1. PSEN1 S169P