Wegiel J, Wisniewski HM, Kuchna I, Tarnawski M, Badmajew E, Popovitch E, Kulczycki J, Dowjat WK, Wisniewski T. Cell-type-specific enhancement of amyloid-beta deposition in a novel presenilin-1 mutation (P117L). J Neuropathol Exp Neurol. 1998 Sep;57(9):831-8. PubMed.

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Mutations

  1. PSEN1 P117L