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Missense mutation Ala34Val in exon 2 of the Lipoprotein Lipase gene in a young man with chylomicronemia


Book ID
117638606
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
130 KB
Volume
14
Category
Article
ISSN
0939-4753

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Lipoprotein lipase (LPL) catalyzes the hydrolysis of the core triacylglycerols of plasma very low density lipoproteins (VLDL) and chylomicrons (Brunzell, 1995). It thus controls a crucial step in the metabolism of triglycerides of exogenous and endogenous origin. Inherited LPL deficiency is clinica