. Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. Lancet Neurol. 2016 Dec;15(13):1326-1335. Epub 2016 Oct 21 PubMed.

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Mutations

  1. PSEN1 F283L
  2. PSEN1 Q222P
  3. PSEN1 S132A
  4. PSEN1 T291A
  5. PSEN1 A434T