Oakley DH, Chung M, Klickstein N, Commins C, Hyman BT, Frosch MP. The Alzheimer Disease-Causing Presenilin-1 L435F Mutation Causes Increased Production of Soluble Aβ43 Species in Patient-Derived iPSC-Neurons, Closely Mimicking Matched Patient Brain Tissue. J Neuropathol Exp Neurol. 2020 Jun 1;79(6):592-604. PubMed.

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Mutations

  1. PSEN1 L435F