Article
[Mutagenic aspects of the lipoprotein lipase gene].
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi - 1 Jan 2000
Petrescu-Dănilă Elena, Voicu Pia-Manuela, Ionescu C R
Abstract excerpt
Lipoprotein lipase (LPL) is an enzyme involved in the metabolism of triglyceride-rich lipoproteins (chylomicrons and VLDL), participating also in the remodeling of HDL particles. It is encoded by a gene located on chromosome 8 (8p22), containing 10 exons. Abnormalities in this gene lead to the development of LPL enzyme deficiency. About 100 mutations have been described in the LPL gene, the most frequent being...
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