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
- Autori: Rolleri, M.; Vivona, N.; Emmanuele, G.; Cefalù, A.; Pisciotta, L.; Guido, V.; Noto, D.; Fiore, B.; Barbagallo, C.; Notarbartolo, A.; Travali, S.; Bertolini, S.; Averna, M.
- Anno di pubblicazione: 2003
- Tipologia: Articolo in rivista (Articolo in rivista)
- OA Link: http://hdl.handle.net/10447/185972
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.