Crook R, Ellis R, Shanks M, Thal LJ, Perez-Tur J, Baker M, Hutton M, Haltia T, Hardy J, Galasko D. Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. Ann Neurol. 1997 Jul;42(1):124-8. PubMed.

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Mutations

  1. PSEN1 N135D