Park J, An SS, Giau VV, Shim K, Youn YC, Bagyinszky E, Kim S. Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia. Neurobiol Aging. 2017 Aug;56:212.e11-212.e17. Epub 2017 Apr 26 PubMed.

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Mutations

  1. PSEN1 L232P