Sorbi S, Nacmias B, Forleo P, Piacentini S, Sherrington R, Rogaev E, St George Hyslop P, Amaducci L. Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. Lancet. 1995 Aug 12;346(8972):439-40. PubMed.

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Mutations

  1. PSEN1 M146L (A>C)