A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.

Lipoprotein lipase (LPL) plays a crucial role in the regulation of lipoprotein metabolism by hydrolysing the core triglycerides of circulating chylomicrons and VLDL. Human, bovine, mouse, and guinea pig complementary DNA clones have recently been isolated and the organization of the human LPL gene i...

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Vydáno v:	J Clin Invest
Hlavní autoři:	Monsalve, M V, Henderson, H, Roederer, G, Julien, P, Deeb, S, Kastelein, J J, Peritz, L, Devlin, R, Bruin, T, Murthy, M R
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	American Society for Clinical Investigation 1990
Témata:	Research Article
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296787/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1975597/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114769
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