Newman M, Wilson L, Verdile G, Lim A, Khan I, Moussavi Nik SH, Pursglove S, Chapman G, Martins RN, Lardelli M. Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease. Hum Mol Genet. 2013 Oct 6; PubMed.

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Mutations

  1. PSEN1 G183V
  2. PSEN1 P242Lfs