A novel nonsense mutation, S466Xa in exo
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H. Mittre; M. Barre; P. Leymarie
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Article
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1996
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John Wiley and Sons
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English
⚖ 225 KB
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Lipoprotein lipase (LPL) catalyzes the hydrolysis of the core triacylglycerols of plasma very low density lipoproteins (VLDL) and chylomicrons . It thus controls a crucial step in the metabolism of triglycerides of exogenous and endogenous origin. Inherited LPL deficiency is clinically expressed as