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

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 low LPL mass in postheparin plasma. The mutation...

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Autors principals:	Taco Bruin, Suat Tuzgöl, Denise E. van Diermen, Nicoline Hoogerbrugge-van der Linden, John D. Brunzell, Michael R. Hayden, John J.P. Kastelein
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 1993-12-01
Col·lecció:	Journal of Lipid Research
Matèries:	splicing mutagenesis polymerase chain reaction
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S0022227520353529
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