Article
Identification of mutations in the lipoprotein lipase (LPL) and apolipoprotein C-II (APOC2) genes using denaturing high performance liquid chromatography (DHPLC).
Clinica chimica acta; international journal of clinical chemistry - 30 Jan 2011
Schuster Kathrin B, Wilfert Wolfgang, Evans David, Thiery Joachim, Teupser Daniel
Abstract excerpt
BACKGROUND: Endothelial lipoprotein lipase (LPL) hydrolyzes triglycerides of chylomicrons and very low density lipoproteins, releasing free fatty acids for local and systemic use. Mutations in the LPL gene or its cofactor APOC2 may result in a decrease or complete loss of enzyme function and subsequently to type I hyperlipoproteinemia. METHODS: We used PCR to amplify all exons and the promoter region of LPL and...
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