Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, Bras J, Alzheimer's Research UK Consortium, Morgan K, Powell JF, Singleton A, Hardy J. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging. 2014 Dec;35(12):2881.e1-2881.e6. Epub 2014 Jun 16 PubMed.

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Mutations

  1. PSEN1 I168T
  2. PSEN2 A237V
  3. APP Y538H
  4. APP A201V
  5. APP V562I
  6. APP E599K
  7. MAPT G200E
  8. PSEN2 R62C
  9. MAPT V224G
  10. MAPT G213R