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).
|Numero di pagine||5|
|Rivista||Arteriosclerosis, Thrombosis, and Vascular Biology|
|Stato di pubblicazione||Published - 2012|
All Science Journal Classification (ASJC) codes
- Cardiology and Cardiovascular Medicine
Valenti, V., Spina, R., Averna, M., Cefalu', A. B., Yue, P., Pinotti, E., Vigna, G., Kathiresan, S., Tarugi, P., & Fayer, F. (2012). Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. Arteriosclerosis, Thrombosis, and Vascular Biology, 32, 805-809.