Golan MP, Styczyńska M, Jóźwiak K, Walecki J, Maruszak A, Pniewski J, Lugiewicz R, Filipek S, Zekanowski C, Barcikowska M. Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene. Exp Neurol. 2007 Dec;208(2):264-8. PubMed.

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Mutations

  1. PSEN1 S170F