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

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

Risultato della ricerca: Article

8 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)93-99
Numero di pagine7
RivistaNMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
Volume13
Stato di pubblicazionePublished - 2003

All Science Journal Classification (ASJC) codes

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

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