Aldudo J, Bullido MJ, Arbizu T, Oliva R, Valdivieso F. Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease. Neurosci Lett. 1998 Jan 16;240(3):174-6. PubMed.

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Mutations

  1. PSEN1 L282R