Lohse P, Brewer HB 3rd, Meng MS, Skarlatos SI, LaRosa JC, Brewer HB Jr. Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. J Lipid Res. 1992 Nov;33(11):1583-90. PubMed.

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Mutations

  1. APOE Loss of Function Variants
  2. APOE W228Ter
  3. APOE c.237-1A>G