Article
Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.
Journal of clinical lipidology - 1 Jan 2000
Pingitore Piero, Lepore Saverio Massimo, Pirazzi Carlo, Mancina Rosellina Margherita, Motta Benedetta Maria, Valenti Luca, Berge Knut Erik, Retterstøl Kjetil, Leren Trond P, Wiklund Olov, Romeo Stefano
Abstract excerpt
BACKGROUND: Type 1 hyperlipoproteinemia is a rare autosomal recessive disorder most often caused by mutations in the lipoprotein lipase (LPL) gene resulting in severe hypertriglyceridemia and pancreatitis. OBJECTIVES: The aim of this study was to identify novel mutations in the LPL gene causing type 1 hyperlipoproteinemia and to understand the molecular mechanisms underlying the severe hypertriglyceridemia....
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