El Bitar F, Qadi N, Al Rajeh S, Majrashi A, Abdulaziz S, Majrashi N, Al Inizi M, Taher A, Al Tassan N. Genetic Study of Alzheimer's Disease in Saudi Population. J Alzheimers Dis. 2019;67(1):231-242. PubMed.

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Mutations

  1. APP E380K
  2. SORL1 V297M
  3. SORL1 A551A
  4. SORL1 R1084C
  5. SORL1 D1100N
  6. SORL1 P1213S
  7. SORL1 F1765F
  8. SORL1 A2131T
  9. SORL1 H269H (SNP 7)
  10. SORL1 E270K
  11. SORL1 A528T (SNP 13)
  12. SORL1 V750I
  13. SORL1 T833T (SNP 16)
  14. SORL1 S1187S (SNP 19)
  15. SORL1 N1246N (SNP 22)
  16. SORL1 N1392N
  17. SORL1 A1584A (SNP 23)
  18. SORL1 K1895K
  19. SORL1 V1967I (I1967V)
  20. SORL1 Q2106Q