Parker J, Mozaffar T, Messmore A, Deignan JL, Kimonis VE, Ringman JM. Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype. Neurosci Lett. 2019 Apr 23;699:195-198. Epub 2019 Feb 1 PubMed.

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Mutations

  1. PSEN1 A431E