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Functional Characterization of LIPA Variants associated with Coronary Artery Disease

OBJECTIVE: Lysosomal Acid Lipase (LIPA) mediates cholesteryl ester hydrolysis, and patients with rare loss-of-function mutations develop hypercholesterolemia and severe disease. Genome-wide association studies of coronary artery disease (CAD) have identified several tightly linked, common intronic r...

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Vydáno v:Arterioscler Thromb Vasc Biol
Hlavní autoři: Evans, Trent D., Zhang, Xiangyu, Clark, Reece E., Alisio, Arturo, Song, Eric, Zhang, Hanrui, Reilly, Muredach P., Stitziel, Nathan O., Razani, Babak
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7050600/
https://ncbi.nlm.nih.gov/pubmed/31645127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/ATVBAHA.119.313443
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