Hooli BV, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, Gusella JF, Moir R, Saunders AJ, Lange C, Tanzi RE, Bertram L. Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology. 2012 Apr 17;78(16):1250-7. Epub 2012 Apr 4 PubMed.

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Mutations

  1. APP V717L
  2. APP Duplication 1104 [APP-APP]
  3. APP Duplication EXT-262 [JAM2-APP]
  4. APP Duplication [JAM2-APP]
  5. APP Duplication F028 [MRPL39-APP]
  6. APP Duplication [APP-CYYR1]
  7. APP Duplication F037 [LINC00158-APP]
  8. APP Duplication EXT-298 [GABPA-CYYR1]
  9. APP Duplication EXT-1252 [LINC00158-ADAMTS1]
  10. APP Duplication EXT-857 [MRPL39-ADAMTS5]
  11. APP Duplication EXT-054 [USP25-ADAMTS1]
  12. APP Duplication EXT-279 [GABPA-ADAMTS1]
  13. APP Duplication F009 [LINC00158-EIF4A1P]
  14. APP Duplication EXT-1093 [AK124194-CYYR1]
  15. APP Duplication F019 [LINC00158-BACH1]
  16. APP Duplication EXT-814 [NCAM2-ADAMTS5]
  17. APP Duplication F229 [NCAM2-EIF4A1P]
  18. APP Duplication EXT-145 [NCAM2-EIF4A1P]
  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 PED 3281 [LINC00158-ADAMTS5]