Sugiyama N, Suzuki K, Matsumura T, Kawanishi C, Onishi H, Yamada Y, Iseki E, Kosaka K. A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. Hum Mutat. 1999;14(1):90. PubMed.

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Mutations

  1. PSEN1 G209R