Abou Khalil Y, Marmontel O, Ferrières J, Paillard F, Yelnik C, Carreau V, Charrière S, Bruckert E, Gallo A, Giral P, Philippi A, Bluteau O, Boileau C, Abifadel M, Di-Filippo M, Carrié A, Rabès JP, Varret M. APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia. Int J Mol Sci. 2022 May 21;23(10) PubMed.

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Mutations

  1. APOE c.-380A>G (rs1038445539)
  2. APOE c.-279G>A
  3. APOE c.-233G>C
  4. APOE c.-105A>G
  5. APOE c.-81G>A (rs766215051)
  6. APOE c.-78C>G (rs750782549)
  7. APOE c.43+11G>A (rs770658351)
  8. APOE c.44-1G>C
  9. APOE T11A
  10. APOE D83D
  11. APOE P102L
  12. APOE R137C
  13. APOE R137H
  14. APOE L155F
  15. APOE L173L
  16. APOE V179A
  17. APOE R185R
  18. APOE V213E
  19. APOE A217A
  20. APOE G218C
  21. APOE E249K
  22. APOE E252K
  23. APOE c.*25C > T (rs374329439)
  24. APOE c.*36C > G
  25. APOE A23V
  26. APOE A23A
  27. APOE L46P
  28. APOE G145D
  29. APOE R163C
  30. APOE L167del
  31. APOE R269G