Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

Vincenza Valenti, Rossella Spina, Maurizio Averna, Angelo Baldassare Cefalu', Pin Yue, Elisa Pinotti, Giovanni Vigna, Sekar Kathiresan, Patrizia Tarugi, Francesca Fayer

Research output: Contribution to journalArticlepeer-review

50 Citations (Scopus)


Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects with primary hypobetalipoproteinemia (total cholesterol<5th percentile).
Original languageEnglish
Pages (from-to)805-809
Number of pages5
JournalArteriosclerosis, Thrombosis, and Vascular Biology
Publication statusPublished - 2012

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine


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