Bai H, Naj AC, Benchek P, Dumitrescu L, Hohman T, Hamilton-Nelson K, Kallianpur AR, Griswold AJ, Vardarajan B, Martin ER, Beecham GW, Below JE, Schellenberg G, Mayeux R, Farrer L, Pericak-Vance MA, Haines JL, Bush WS, Alzheimer's Disease Genetics Consortium. A haptoglobin (HP) structural variant alters the effect of APOE alleles on Alzheimer's disease. Alzheimers Dement. 2023 Apr 12; PubMed.

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Mutations

  1. APOE C130R (ApoE4)
  2. APOE R176C (ApoE2)
  3. APOE [R176C];[C130R] (ApoE2/4)