Steiner H, Revesz T, Neumann M, Romig H, Grim MG, Pesold B, Kretzschmar HA, Hardy J, Holton JL, Baumeister R, Houlden H, Haass C. A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques. J Biol Chem. 2001 Mar 9;276(10):7233-9. Epub 2000 Nov 17 PubMed.

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Mutations

  1. PSEN1 I83_M84del