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

Carlo Maria Barbagallo, Davide Noto, Maurizio Averna, Angelo Baldassare Cefalu', Nicoletta Vivona, Nicoletta Vivona, Angelo B. Cefalù, Emmanuele, Rolleri, Livia Pisciotta, Guido, Fiore, Giovanni Emmanuele, Davide Noto, Salvatore Travali, Stefano Bertolini, Maurizio R. Averna, Alberto Notarbartolo, Carlo M. Barbagallo

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)93-99
Number of pages7
JournalNMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
Volume13
Publication statusPublished - 2003

All Science Journal Classification (ASJC) codes

  • Medicine (miscellaneous)
  • Endocrinology, Diabetes and Metabolism
  • Nutrition and Dietetics
  • Cardiology and Cardiovascular Medicine

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