Jimenez-Escrig A, Rabano A, Guerrero C, Simon J, Barquero MS, Güell I, Ginestal RC, Montero T, Orensanz L. New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism. Eur J Neurol. 2004 Oct;11(10):663-9. PubMed.

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Mutations

  1. PSEN1 V272A
  2. PSEN1 V272D