Hwang JY, Zukin RS. REST, a master transcriptional regulator in neurodegenerative disease. Curr Opin Neurobiol. 2018 Feb;48:193-200. Epub 2018 Jan 30 PubMed.

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Mutations

  1. PSEN1 M146L (A>C)
  2. PSEN1 M146L (A>T)
  3. PSEN1 A431E