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Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia

✍ Scribed by Daria Pašalić; Zvonko Jurčić; Gordana Stipančić; Goran Ferenčak; Trond P. Leren; Srdjan Djurovic; Ana Stavljenić-Rukavina


Book ID
116349798
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
272 KB
Volume
343
Category
Article
ISSN
0009-8981

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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