A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410–>Val) leads to enzyme inactivation and familial chylomicronemia.

A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410–>Val) leads to enzyme inactivation and familial chylomicronemia.

Lipoprotein lipase (LPL) is a complex enzyme consisting of multiple functional domains essential for the initial hydrolysis of triglycerides present in plasma lipoproteins. Previous studies have localized the catalytic domain of LPL, responsible for the hydrolytic function of the enzyme, to the N-te...

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Bibliographic Details
Main Authors:	L Previato, O Guardamagna, K.A Dugi, R Ronan, G.D. Talley, S Santamarina-Fojo, H.B. Brewer, Jr.
Format:	Article
Language:	English
Published:	Elsevier 1994-09-01
Series:	Journal of Lipid Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S0022227520411538

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