TY - JOUR
T1 - Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
AU - Valenti, Vincenza
AU - Spina, Rossella
AU - Noto, Davide
AU - Averna, Maurizio
AU - Cefalu', Angelo Baldassare
AU - Yue, Pin
AU - Pinotti, Elisa
AU - Vigna, Giovanni
AU - Kathiresan, Sekar
AU - Tarugi, Patrizia
AU - Fayer, Francesca
PY - 2012
Y1 - 2012
N2 - 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).
AB - 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).
UR - http://hdl.handle.net/10447/73838
M3 - Article
SN - 1079-5642
VL - 32
SP - 805
EP - 809
JO - Arteriosclerosis, Thrombosis, and Vascular Biology
JF - Arteriosclerosis, Thrombosis, and Vascular Biology
ER -