Furuya H, Yasuda M, Terasawa KJ, Tanaka K, Murai H, Kira J, Ohyagi Y. A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion. J Neurol Sci. 2003 May 15;209(1-2):75-7. PubMed.

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Mutations

  1. PSEN1 L250V