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).
Noto, D., Cefalù, A., Valenti, V., Fayer, F., Pinotti, E., Ditta, M., et al. (2012). Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. ARTERIOSCLEROSIS, THROMBOSIS, AND VASCULAR BIOLOGY, 32(3), 805-809 [10.1161/ATVBAHA.111.238766].
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
Noto, D;CEFALU', Angelo Baldassare;VALENTI, Vincenza;FAYER, Francesca;SPINA, Rossella;AVERNA, Maurizio
2012-01-01
Abstract
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).
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