Sorbi S, Tedde A, Nacmias B, Ciantelli M, Caffarra P, Ghidoni E, Bracco L, Piccini C. Novel presenilin 1 and presenilin 2 mutations in early-onset Alzheimer's disease families. Neurobiol Aging. 2002 Jul-Aug;23(1S):312.

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Mutations

  1. PSEN2 S130L