Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cys112, Cys158). Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.
Rolleri, M., Vivona, N., Emmanuele, G., Cefalù, A., Pisciotta, L., Guido, V., et al. (2003). Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele. NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES, 13(2), 93-99 [10.1016/S0939-4753(03)80024-8].
Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele
VIVONA, Nicoletta;CEFALU', Angelo Baldassare;NOTO, Davide;BARBAGALLO, Carlo Maria;AVERNA, Maurizio
2003-01-01
Abstract
Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cys112, Cys158). Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.
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