Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia
نویسندگان
چکیده
منابع مشابه
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.
OBJECTIVE 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 ...
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We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3...
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ژورنال
عنوان ژورنال: Arteriosclerosis, Thrombosis, and Vascular Biology
سال: 2012
ISSN: 1079-5642,1524-4636
DOI: 10.1161/atvbaha.111.238766