Koopal C, Marais AD, Westerink J, Visseren FL. Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy. J Clin Lipidol. 2017 Jan - Feb;11(1):12-23.e1. Epub 2016 Oct 13 PubMed.

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Mutations

  1. APOE R43C (Kyoto)
  2. APOE G145D
  3. APOE R154S (Christchurch)
  4. APOE R154C
  5. APOE R154H
  6. APOE R163C
  7. APOE K164E