Yasuda M, Maeda K, Hashimoto M, Yamashita H, Ikejiri Y, Bird TD, Tanaka C, Schellenberg GD. A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2. Arch Neurol. 1999 Jan;56(1):65-9. PubMed.

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Mutations

  1. PSEN1 E123K