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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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Autors principals: Monsalve, M V, Henderson, H, Roederer, G, Julien, P, Deeb, S, Kastelein, J J, Peritz, L, Devlin, R, Bruin, T, Murthy, M R
Format: Artigo
Idioma:Inglês
Publicat: 1990
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC296787/
https://ncbi.nlm.nih.gov/pubmed/1975597
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