Vöglein J, Willem M, Trambauer J, Schönecker S, Dieterich M, Biskup S, Giudici C, Utz K, Oberstein T, Brendel M, Rominger A, Danek A, Steiner H, Haass C, Levin J. Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effects. Neurobiol Aging. 2019 Dec;84:241.e5-241.e11. Epub 2019 Sep 20 PubMed.

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Mutations

  1. PSEN1 F175del