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Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia

✍ Scribed by Heiko Wiebusch; Harald Funke; Taco Bruin; Hans Bucher; Arnold von Eckardstein; John J.P. Kastelein; Gerd Assmann

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 249 KB
Volume: 8
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)8:4<381::aid-humu16>3.0.co;2-z

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A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia

✍ Heiko Wiebusch; Harald Funke; René Santer; Werner Richter; Gerd Assmann 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB 👁 1 views

Lipoprotein lipase (LPL) catalyzes the hydrolysis of the core triacylglycerols of plasma very low density lipoproteins (VLDL) and chylomicrons (Brunzell, 1995). It thus controls a crucial step in the metabolism of triglycerides of exogenous and endogenous origin. Inherited LPL deficiency is clinica