Sánchez A, Bustos P, Honorato P, Sáez K, Elim-Jannes C, Barriga N, Ibieta G, Pérez L, Alonso R, Radojkovic C, Asenjo S. [Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents]. Rev Med Chil. 2021 Sep;149(9):1267-1274. PubMed.

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Mutations

  1. APOE E204Ter
  2. APOE I268M