Li YS, Yang ZH, Zhang Y, Yang J, Shang DD, Zhang SY, Wu J, Ji Y, Zhao L, Shi CH, Xu YM. Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer's Disease. Aging Dis. 2019 Aug;10(4):908-914. PubMed.

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Mutations

  1. PSEN1 Y256N
  2. PSEN1 H214R
  3. PSEN1 G206V