Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E, St George-Hyslop P, Mayeux R. Coding mutations in SORL1 and Alzheimer disease. Ann Neurol. 2015 Feb;77(2):215-27. PubMed.

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Mutations

  1. SORL1 N174del
  2. SORL1 E270K
  3. SORL1 N371T
  4. SORL1 E887G
  5. SORL1 T947M
  6. SORL1 R1041S
  7. SORL1 Q1074E
  8. SORL1 F1099L
  9. SORL1 I1116V
  10. SORL1 R1207Q
  11. SORL1 Q1301H
  12. SORL1 C1302Afs
  13. SORL1 F1374L
  14. SORL1 T1435S
  15. SORL1 T1511I
  16. SORL1 G1536S
  17. SORL1 L1644Ter
  18. SORL1 V1967I (I1967V)
  19. SORL1 D2065V
  20. SORL1 K2083R
  21. SORL1 R2164Gfs
  22. SORL1 M105T
  23. SORL1 A528T (SNP 13)
  24. SORL1 W1563C
  25. SORL1 H1813Q

News

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  2. Stem Cells Reveal Mechanism Behind Alzheimer’s Risk Factor
  3. Gaining Notoriety, SORL1 Claims Spot Among Top Alzheimer’s Genes