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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Autors principals: Olivecrona, Gunilla, Ehrenborg, Ewa, Semb, Henrik, Makoveichuk, Elena, Lindberg, Anna, Hayden, Michael R., Gin, Peter, Davies, Brandon S. J., Weinstein, Michael M., Fong, Loren G., Beigneux, Anne P., Young, Stephen G., Olivecrona, Thomas, Hernell, Olle
Format: Artigo
Idioma:Inglês
Publicat: The American Society for Biochemistry and Molecular Biology 2010
Matèries:
Patient-Oriented and Epidemiological Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035517/
https://ncbi.nlm.nih.gov/pubmed/20026666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.M002717
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