Queralt R, Ezquerra M, Lleó A, Castellví M, Gelpí J, Ferrer I, Acarín N, Pasarín L, Blesa R, Oliva R. A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. J Neurol Neurosurg Psychiatry. 2002 Feb;72(2):266-9. PubMed.

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Mutations

  1. PSEN1 V89L (G>T)
  2. PSEN1 V89L (G>C)