Lin H, Huang W, Ye B, Zhou X, Mo X. [Mutation analysis of presenilin 1 gene in a Chinese family affected with early-onset familial Alzheimer's disease]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):324-7. PubMed.

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Mutations

  1. PSEN1 H163R