Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Mann D, Snowden J, Neary D, Harris J, Bras J, ARUK Consortium, Morgan K, Powell JF, Singleton A, Hardy J. Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiol Aging. 2014 Oct;35(10):2422.e13-6. Epub 2014 May 2 PubMed.

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Mutations

  1. PSEN1 L166V
  2. PSEN1 S230R
  3. APP K496Q
  4. APP P620L
  5. APP V717L
  6. PSEN1 C410Y
  7. PSEN2 S130L
  8. PSEN1 L113_I114insT (Intron 4)