Article
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.
The Journal of clinical endocrinology and metabolism - 1 Oct 2011
Charrière Sybil, Peretti Noël, Bernard Sophie, Di Filippo Mathilde, Sassolas Agnès, Merlin Micheline, Delay Mireille, Debard Cyrille, Lefai Etienne, Lachaux Alain, Moulin Philippe, Marçais Christophe
Abstract excerpt
CONTEXT: GPIHBP1 is a new endothelial binding site for lipoprotein lipase (LPL), the key enzyme for intravascular lipolysis of triglyceride-rich lipoproteins (TGRL). We have identified two new missense mutations of the GPIHBP1 gene, C89F and G175R, by systematic sequencing in a cohort of 376 hyperchylomicronemic patients without mutations on the LPL, APOC2, or APOA5 gene. OBJECTIVE: Phenotypic expression and...
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