. Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia. Clin Sci (Lond). 1997 Jul;93(1):89-95. PubMed.

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Mutations

  1. APOE G145D
  2. APOE R269G