Article
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.
Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 Apr 2003
Rolleri M, Vivona N, Emmanuele G, Cefalù A B, Pisciotta L, Guido V, Noto D, Fiore B, Barbagallo C M, Notarbartolo A, Travali S, Bertolini S, Averna M R
Abstract excerpt
BACKGROUND AND AIMS: 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. METHODS AND RESULTS: This is the first report...
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