Wang W, Moerman-Herzog AM, Slaton A, Barger SW. Presenilin 1 mutations influence processing and trafficking of the ApoE receptor apoER2. Neurobiol Aging. 2017 Jan;49:145-153. Epub 2016 Oct 11 PubMed.

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Mutations

  1. PSEN1 R278I
  2. PSEN1 L282V