Lee JH, Chulikavit M, Pang D, Zigman WB, Silverman W, Schupf N. Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome. Neurosci Lett. 2007 Sep 25;425(2):105-9. PubMed.

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Mutations

  1. SORL1 c.285+4712C>A
  2. SORL1 A528T (SNP 13)
  3. SORL1 N1246N (SNP 22)

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