Han LH, Xue YY, Zheng YC, Li XY, Lin RR, Wu ZY, Tao QQ. Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing. Clin Interv Aging. 2020;15:1831-1839. Epub 2020 Oct 2 PubMed.

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Mutations

  1. PSEN2 P436L
  2. PSEN1 I213T
  3. PSEN1 W165C (G>T)