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• W2106937178 abstract "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 increasing plasma triglyceride and HDL cholesterol levels in rodents. Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders. (Funded by the National Human Genome Research Institute and others.)." @default.
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• W2106937178 date "2010-12-02" @default.
• W2106937178 modified "2023-10-11" @default.
• W2106937178 title "Exome Sequencing,<i>ANGPTL3</i>Mutations, and Familial Combined Hypolipidemia" @default.
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• W2106937178 doi "https://doi.org/10.1056/nejmoa1002926" @default.
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