Wen Y, Miyashita A, Kitamura N, Tsukie T, Saito Y, Hatsuta H, Murayama S, Kakita A, Takahashi H, Akatsu H, Yamamoto T, Kosaka K, Yamaguchi H, Akazawa K, Ihara Y, Kuwano R. SORL1 is genetically associated with neuropathologically characterized late-onset Alzheimer's disease. J Alzheimers Dis. 2013;35(2):387-94. PubMed.

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Mutations

  1. SORL1 c.940-7761A>G
  2. SORL1 c.4214-117G>C
  3. SORL1 c.5062-79C>T
  4. SORL1 H269H (SNP 7)
  5. SORL1 A528T (SNP 13)
  6. SORL1 A1584A (SNP 23)