Young JE, Boulanger-Weill J, Williams DA, Woodruff G, Buen F, Revilla AC, Herrera C, Israel MA, Yuan SH, Edland SD, Goldstein LS. Elucidating molecular phenotypes caused by the SORL1 Alzheimer's disease genetic risk factor using human induced pluripotent stem cells. Cell Stem Cell. 2015 Apr 2;16(4):373-85. Epub 2015 Mar 12 PubMed.

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News

  1. Stem Cells Reveal Mechanism Behind Alzheimer’s Risk Factor

Mutations

  1. SORL1 Y141C
  2. SORL1 H269H (SNP 7)
  3. SORL1 E270K
  4. SORL1 G511R
  5. SORL1 N1246N (SNP 22)
  6. SORL1 A1584A (SNP 23)