Giau VV, Wang MJ, Bagyinszky E, Youn YC, An SS, Kim S. Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism. Neurobiol Aging. 2018 Dec;72:188.e13-188.e17. Epub 2018 Aug 9 PubMed.

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Mutations

  1. PSEN1 G417A
  2. PSEN1 G417S