Lee JH, Kahn A, Cheng R, Reitz C, Vardarajan B, Lantigua R, Medrano M, Jiménez-Velázquez IZ, Williamson J, Nagy P, Mayeux R. Disease-related mutations among Caribbean Hispanics with familial dementia. Mol Genet Genomic Med. 2014 Sep;2(5):430-7. Epub 2014 Jun 4 PubMed.

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Mutations

  1. PSEN2 I235F
  2. PSEN2 P334A
  3. PSEN2 A377V
  4. APP V340M
  5. APP S614G
  6. PSEN1 G206A
  7. PSEN1 E318G