Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia

Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia

We investigated a family from northern Sweden in which three of four siblings have congenital chylomicronemia. LPL activity and mass in pre- and postheparin plasma were low, and LPL release into plasma after heparin injection was delayed. LPL activity and mass in adipose tissue biopsies appeared nor...

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Bibliographic Details
Main Authors: Gunilla Olivecrona, Ewa Ehrenborg, Henrik Semb, Elena Makoveichuk, Anna Lindberg, Michael R. Hayden, Peter Gin, Brandon S.J. Davies, Michael M. Weinstein, Loren G. Fong, Anne P. Beigneux, Stephen G. Young, Thomas Olivecrona, Olle Hernell
Format: Article
Language:English
Published: Elsevier 2010-06-01
Series:Journal of Lipid Research
Subjects:
compound heterozygote
lipoprotein lipase
milk lipids
mammary gland
glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1
endothelial cells
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520410284

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http://www.sciencedirect.com/science/article/pii/S0022227520410284

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