Sutovsky S, Smolek T, Turcani P, Petrovic R, Brandoburova P, Jadhav S, Novak P, Attems J, Zilka N. Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn. J Neural Transm (Vienna). 2018 Jun;125(6):965-976. Epub 2018 Feb 5 PubMed.

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Mutations

  1. PSEN1 T116N