Nygaard HB, Lippa CF, Mehdi D, Baehring JM. A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features. Am J Alzheimers Dis Other Demen. 2014 Jan 24;29(5):433-435. PubMed.

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Mutations

  1. PSEN1 D40del (delGAC)
  2. PSEN1 D40del (delACG)