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A missense mutation Pro157Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity

✍ Scribed by Taco BRUIN; John J. P. KASTELEIN; Denise E. VAN DIERMEN; Yuanhong MA; Howard E. HENDERSON; Paul M. J. STUYT; Anton F. H. STALENHOEF; Augueste STURK; John D. BRUNZELL; Michael R. HAYDEN


Book ID
115129514
Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
668 KB
Volume
208
Category
Article
ISSN
1432-1327

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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