Kowalska A, Forsell C, Florczak J, Pruchnik-Wolińska D, Modestowicz R, Paprzycki W, Wender M, Lannfelt L. A Polish pedigree with Alzheimer's disease determined by a novel mutation in exon 12 of the presenilin 1 gene: clinical and molecular characterization. Folia Neuropathol. 1999;37(1):57-61. PubMed.

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Mutations

  1. PSEN1 L424R