Bralten J, Arias-Vásquez A, Makkinje R, Veltman JA, Brunner HG, Fernández G, Rijpkema M, Franke B. Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults. Am J Psychiatry. 2011 Oct;168(10):1083-9. PubMed.

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Mutations

  1. SORL1 c.285+5716T>C
  2. SORL1 c.402+2214T>A
  3. SORL1 c.529-2562A>G
  4. SORL1 c.939+405A>G
  5. SORL1 c.1597-4663T>G
  6. SORL1 c.1597-4595G>A
  7. SORL1 c.1597-2411C>T
  8. SORL1 c.2051+49A>C
  9. SORL1 c.2051+690T>G
  10. SORL1 c.2051+986G>A
  11. SORL1 c.2266+590A>C
  12. SORL1 c.3049+2117G>C
  13. SORL1 c.3050-3221T>C
  14. SORL1 c.3337+1640A>G
  15. SORL1 c.3338-1913G>A
  16. SORL1 c.3460+868A>G
  17. SORL1 c.3460+987C>A
  18. SORL1 c.3580+229G>A
  19. SORL1 c.3581-460C>T
  20. SORL1 c.4520-1909G>A
  21. SORL1 c.4520-663A>G
  22. SORL1 c.5419+110G>A
  23. SORL1 c.6172-239G>A
  24. SORL1 H269H (SNP 7)