Shibata N, Ohnuma T, Baba H, Higashi S, Nishioka K, Arai H. Genetic association between SORL1 polymorphisms and Alzheimer's disease in a Japanese population. Dement Geriatr Cogn Disord. 2008;26(2):161-4. PubMed.

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Mutations

  1. SORL1 N1246N (SNP 22)
  2. SORL1 A1584A (SNP 23)