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Forty-six mutations in the human APOA1 gene are listed in the Human Gene Mutation Database. Eighteen mutations cause a Low-HDL phenotype associated with an extremely variable atherosclerosis burden and coronary risk, illustrating that the plasma HDL level per se does not necessarily reflect the atheroprotective potential of these lipoproteins, and highlighting the need for novel tools for cardiovascular...
Lecithin:cholesterol acyltransferase (LCAT) is the enzyme responsible for the synthesis of most of the plasma cholesteryl esters, and plays a central role in intravascular HDL metabolism, in the determination of plasma HDL levels, and in macrophage cholesterol efflux and reverse cholesterol transport. Mutations in the human LCAT gene cause two LCAT deficiency syndromes, classical familial LCAT deficiency...
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