Mariano C, Alves AC, Medeiros AM, Chora JR, Antunes M, Futema M, Humphries SE, Bourbon M. The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes. Clin Genet. 2020 Mar;97(3):457-466. PubMed.

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Mutations

  1. APOE Loss of Function Variants
  2. APOE R163C
  3. APOE W228Ter