✦ LIBER ✦

A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries

✍ Scribed by Ma, Yuanhong; Wilson, Bonnie I.; Bijvoet, Saskia; Henderson, Howard E.; Cramb, Elizabeth; Roederer, Ghislaine; Ven Murthy, M.R.; Julien, Pierre; Bakker, Henk D.; Kastelein, John J.P.; Brunzell, John D.; Hayden, Michael R.

Book ID: 121979280
Publisher: Elsevier Science
Year: 1992
Tongue: English
Weight: 927 KB
Volume: 13
Category: Article
ISSN: 0888-7543
DOI: 10.1016/0888-7543(92)90136-G

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Missense mutation W86R in exon 3 of the

Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia

✍ Daria Pašalić; Zvonko Jurčić; Gordana Stipančić; Goran Ferenčak; Trond P. Leren; 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 272 KB

Missense mutation Ala34Val in exon 2 of

Missense mutation Ala34Val in exon 2 of the Lipoprotein Lipase gene in a young man with chylomicronemia

📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 130 KB

A novel missense (E163G) mutation in the

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 👁 2 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

A single Ser259Arg mutation in the gene

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

✍ Luc Foubert; Taco Bruin; Jean Luc De Gennes; Ewa Ehrenborg; Jean Furioli; John K 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

Lipoprotein lipase (LPL) is the rate-limiting enzyme for the hydrolysis of triglyceride-rich lipoproteins. Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations. In general, allelic heterogeneity is observed in LPL deficiency in different popul

A novel frameshift mutation in exon 6 (t

A novel frameshift mutation in exon 6 (the site of Asn 291) of the lipoprotein lipase gene in type I hyperlipidemia

✍ Junji Kobayashi; Izumi Nagashima; Kouichi Taira; Minoru Hikita; Ken Tamura; Hide 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 408 KB

Recurrent missense mutations at the firs

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

✍ Yuanhong Ma; Ming-Sun Liu; David Chitayat; Taco Bruin; Ulrike Beisiegel; Pascale 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 742 KB

Communicated by Ronald G. Worton Mutations in the lipoprotein lipase (LPL) gene are the most common cause of familial chylomicron. emia. Here we define the molecular basis of LPL deficiency in four patients of German, French, Dutch, and Chinese descent. We show that two of the probands of Dutch and