Thonberg H, Chiang HH, Lilius L, Forsell C, Lindström AK, Johansson C, Björkström J, Thordardottir S, Sleegers K, Van Broeckhoven C, Rönnbäck A, Graff C. Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene. Acta Neuropathol Commun. 2017 Jun 9;5(1):43. PubMed.

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Mutations

  1. SORL1 G1017_E1074del (c.3050-2A > G)
  2. SORL1 R1303C
  3. SORL1 G1732A
  4. SORL1 S101F
  5. SORL1 R332W
  6. SORL1 R416Ter
  7. SORL1 S636T
  8. SORL1 D734N
  9. SORL1 C1344R
  10. SORL1 P1454S
  11. SORL1 V2097I

News

  1. Gaining Notoriety, SORL1 Claims Spot Among Top Alzheimer’s Genes