La Bella V, Liguori M, Cittadella R, Settipani N, Piccoli T, Manna I, Quattrone A, Piccoli F. A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease. Eur J Neurol. 2004 Aug;11(8):521-4. PubMed.

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Mutations

  1. PSEN1 T116I