Webster JA, Myers AJ, Pearson JV, Craig DW, Hu-Lince D, Coon KD, Zismann VL, Beach T, Leung D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Huentelman MJ, Joshipura K, Walker D, Heward CB, Ravid R, Rogers J, Papassotiropoulos A, Hardy J, Reiman EM, Stephan DA. Sorl1 as an Alzheimer's disease predisposition gene?. Neurodegener Dis. 2008;5(2):60-4. PubMed.

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Mutations

  1. SORL1 c.285+882T>C
  2. SORL1 c.285+6071C>T
  3. SORL1 c.286-2723G>A
  4. SORL1 c.286-483C>T
  5. SORL1 c.690+363T>C
  6. SORL1 c.758+196G>A
  7. SORL1 c.758+1497G>A
  8. SORL1 c.758+3184A>G
  9. SORL1 c.939+1492A>G
  10. SORL1 c.940-841A>G
  11. SORL1 c.1685+1290T>C
  12. SORL1 c.1865-640C>T
  13. SORL1 c.2571+843T>A
  14. SORL1 c.3050-3093C>T
  15. SORL1 c.3050-2062T>C
  16. SORL1 c.3223+1359G>A
  17. SORL1 c.3337+541A>G
  18. SORL1 c.3337+1210A>G
  19. SORL1 c.3461-1442T>C
  20. SORL1 c.3581-2241T>C
  21. SORL1 c.3581-2227C>T
  22. SORL1 c.3581-2133A>G
  23. SORL1 c.3581-1516T>A
  24. SORL1 c.4369+2223G>A
  25. SORL1 c.4370-1386A>G
  26. SORL1 c.4520-1511T>C
  27. SORL1 c.4520-1304T>C
  28. SORL1 c.4949-458G>A
  29. SORL1 c.5167-318C>T
  30. SORL1 c.5323-507C>A
  31. SORL1 c.6171+1050C>T
  32. SORL1 c.6171+1112C>T
  33. SORL1 c.6365-380T>C
  34. SORL1 H269H (SNP 7)