Jiménez Caballero PE, Lladó A, de Diego Boguna C, Martin Correa E, Serviá Candela M, Marsal Alonso C. A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis. Eur J Neurol. 2008 Sep;15(9):991-4. PubMed.

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Mutations

  1. PSEN1 V261L