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Akademický článek

Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154–>Ser substitution in lipoprotein lipase.

Autor: Taco Bruin, Suat Tuzgöl, Denise E. van Diermen, Nicoline Hoogerbrugge-van der Linden, John D. Brunzell, Michael R. Hayden, John J.P. Kastelein

Publikováno v: Journal of Lipid Research, Vol 34, Iss 12, Pp 2109-2119 (1993)

We report the molecular basis of familial chylomicronemia and recurrent pancreatitis in five members of a large Dutch family. All patients had normal plasma hepatic lipase and apoC-II levels, but absent lipoprotein lipase (LPL) catalytic activity and

Externí odkaz: https://doaj.org/article/efac4fec1d994fcd8ce4b3dab2f10ac0

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A common variant in the gene for lipoprotein lipase (Asp9--Asn). Functional implications and prevalence in normal and hyperlipidemic subjects

Autor: France Mailly, Yesim Tugrul, Paul W. A. Reymer, Taco Bruin, Mary Seed, Björn F. Groenemeyer, Anette Asplund-Carlson, David Vallance, Anthony F. Winder, George J. Miller, John J. P. Kastelein, Anders Hamsten, Gunilla Olivecrona, Steve E. Humphries, Philippa J. Talmud

Publikováno v: Arteriosclerosis, thrombosis, and vascular biology. 15(4)

Abstract Subjects with combined hyperlipidemia (CHL) were screened for mutations in the lipoprotein lipase (LPL) gene by single-strand conformational polymorphism, and a previously reported G→A DNA sequence change in exon 2, causing substitution of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c25ebc0ce327488b8b43d24ce5a0bcad
https://pubmed.ncbi.nlm.nih.gov/7749858

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