Jiang HY, Li GD, Dai SX, Bi R, Zhang DF, Li ZF, Xu XF, Zhou TC, Yu L, Yao YG. Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease. Neurobiol Aging. 2015 Mar;36(3):1602.e3-6. Epub 2014 Dec 18 PubMed.

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Mutations

  1. PSEN1 R352C
  2. PSEN1 M233L (A>C)