Butler R, Beattie BL, Thong UP, Dwosh E, Guimond C, Feldman HH, Hsiung GY, Rogaeva E, St George-Hyslop P, Sadovnick AD. A novel PS1 gene mutation in a large Aboriginal kindred. Can J Neurol Sci. 2010 May;37(3):359-64. PubMed.

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Mutations

  1. PSEN1 L250F