Lopez-Toledo G, Silva-Lucero MD, Herrera-Díaz J, García DE, Arias-Montaño JA, Cardenas-Aguayo MD. Patient-Derived Fibroblasts With Presenilin-1 Mutations, That Model Aspects of Alzheimer's Disease Pathology, Constitute a Potential Object for Early Diagnosis. Front Aging Neurosci. 2022;14:921573. Epub 2022 Jul 1 PubMed.

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Mutations

  1. PSEN1 M146L (A>C)
  2. PSEN1 M146L (A>T)
  3. PSEN1 A246E