Ringman JM, Gylys KH, Medina LD, Fox M, Kepe V, Flores DL, Apostolova LG, Barrio JR, Small G, Silverman DH, Siu E, Cederbaum S, Hecimovic S, Malnar M, Chakraverty S, Goate AM, Bird TD, Leverenz JB. Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation. Neurosci Lett. 2011 Jan 10;487(3):287-92. Epub 2010 Nov 19 PubMed.

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Mutations

  1. PSEN1 S212Y
  2. PSEN1 I238M