Litcius/Paper detail

Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

The University of North Carolina at Chapel Hill University Libraries

2020Figshare62 citationsDOIOpen Access PDF

Abstract

Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.

Topics & Concepts

Internal medicineCardiologyMutationLoss functionCoronary diseaseMedicineFunction (biology)Coronary heart diseaseGeneticsBiologyGenePhenotypePharmacogenetics and Drug MetabolismMitochondrial Function and PathologyReceptor Mechanisms and Signaling