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65249186429
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Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans
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This study identified loss of function mutations in LIPG (endothelial lipase) in individuals with high HDL and showed that these mutations lead to reduced lipolytic activity of endothelial lipase
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Edmondson AC, et al.: Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. J Clin Invest 2009, 119: 1042-1050. This study identified loss of function mutations in LIPG (endothelial lipase) in individuals with high HDL and showed that these mutations lead to reduced lipolytic activity of endothelial lipase.
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(2009)
J Clin Invest
, vol.119
, pp. 1042-1050
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Edmondson, A.C.1
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