Hoffer MJ, Niththyananthan S, Naoumova RP, Kibirige MS, Frants RR, Havekes LM, Thompson GR. Apolipoprotein E1-Hammersmith (Lys146-->Asn;Arg147-->Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia. Atherosclerosis. 1996 Aug 2;124(2):183-9. PubMed.

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Mutations

  1. APOE K164_R165delinsNW
  2. APOE R165W