Ontology highlight
ABSTRACT:
SUBMITTER: Musunuru K
PROVIDER: S-EPMC3008575 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
The New England journal of medicine 20101013 23
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 protein). ANGPTL3 has been reported to inhibit lipoprotein lipase and endothelial lipase, thereby incr ...[more]