Li XY, Cui Y, Jing D, Xie K, Zhong X, Kong Y, Wang Y, Chu M, Wang C, Wu L. Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy. Alzheimer Dis Assoc Disord. 2021 Jul-Sep 01;35(3):208-213. PubMed.

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Mutations

  1. PSEN1 A136V
  2. PSEN2 M239T