Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene

Missense mutations in exon 5 of the LPL gene are the most common reported cause of LPL deficiency. Exon 5 is also the region with the strongest homology to pancreatic and hepatic lipase, and is conserved in LPL from different species. Mutant LPL proteins from post-heparin plasma from patients homozy...

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書誌詳細

主要な著者:	Jonas Peterson, Amir F. Ayyobi, Yuanhong Ma, Howard Henderson, Manuel Reina, Samir S. Deeb, Silvia Santamarina-Fojo, Michael R. Hayden, John D. Brunzell
フォーマット:	Artigo
言語:	Inglês
出版事項:	Elsevier 2002-03-01
シリーズ:	Journal of Lipid Research
主題:	LPL deficiency triglyceride heparin LPL gene LPL mass
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S0022227520301462
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