Lott IT, Head E. Dementia in Down syndrome: unique insights for Alzheimer disease research. Nat Rev Neurol. 2019 Mar;15(3):135-147. PubMed.

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Mutations

  1. APP Duplication 1104 [APP-APP]
  2. APP Duplication EXT-262 [JAM2-APP]
  3. APP Duplication [JAM2-APP]
  4. APP Duplication F028 [MRPL39-APP]
  5. APP Duplication [APP-CYYR1]
  6. APP Duplication F037 [LINC00158-APP]
  7. APP Duplication EXT-298 [GABPA-CYYR1]
  8. APP Duplication EXT-857 [MRPL39-ADAMTS5]
  9. APP Duplication EXT-054 [USP25-ADAMTS1]
  10. APP Duplication EXT-279 [GABPA-ADAMTS1]
  11. APP Duplication F009 [LINC00158-EIF4A1P]
  12. APP Duplication EXT-1093 [AK124194-CYYR1]
  13. APP Duplication F019 [LINC00158-BACH1]
  14. Trisomy 21
  15. APP Duplication EXT-814 [NCAM2-ADAMTS5]
  16. APP Duplication F229 [NCAM2-EIF4A1P]
  17. APP Duplication EXT-145 [NCAM2-EIF4A1P]
  18. APP Duplication EXT-773 [LINC00158-CYYR1]
  19. APP Duplication EXT-144 [BTG3-EIF4A1P]
  20. APP Duplication EXT-187 [POTED-ADAMTS5]
  21. APP Duplication ALZ-254 [POTED-ADAMTS5]
  22. APP Duplication EXT-006 [HSPA13-GRIK1]
  23. APP Duplication EXT-019 [LINC00158-USP16]
  24. APP Duplication EXT-1230 [BTG3- ADAMTS5]
  25. APP Duplication EXT-1516 [APP-ADAMTS1]
  26. APP Duplication EXT 1853 [MRPL39-CYYR1]
  27. APP Duplication EXT-1864 [TUBAP-ADAMTS1]
  28. APP Duplication EXT 2066 [MRPL39-APP]
  29. APP Duplication ALZ-478 [LINC00158-EIF4A1P]