Raman A, Lin X, Suri M, Hewitt M, Constantinescu CS, Phillips MF. A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis. J Neurol Sci. 2007 Sep 15;260(1-2):78-82. PubMed.

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Mutations

  1. PSEN1 R278S