Mehrabian s, Traykov LT, Jordanova A, Rademakers R, Cruts M, Raycheva MR, Van den Broeck M, Kremensky I, Van Broeckhoven C. Novel PSEN1 gene mutation in a large Bulgarian pedigree with Alzheimer's disease and atypical phenotype. Eur J Neurol. 2006;13(Suppl 2):41.

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Mutations

  1. PSEN1 L424F