Barthelson K, Dong Y, Newman M, Lardelli M. PRESENILIN 1 Mutations Causing Early-Onset Familial Alzheimer's Disease or Familial Acne Inversa Differ in Their Effects on Genes Facilitating Energy Metabolism and Signal Transduction. J Alzheimers Dis. 2021;82(1):327-347. PubMed.

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Mutations

  1. PSEN1 T440del