Article
Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.
European journal of clinical investigation - 1 Aug 1996
de Bruin T W, Mailly F, van Barlingen H H, Fisher R, Castro Cabezas M, Talmud P, Dallinga-Thie G M, Humphries S E
Abstract excerpt
The role of the lipoprotein lipase (LPL) gene in familial combined hyperlipidaemia (FCH) is unclear at present. We screened a group of 28 probands with familial combined hyperlipidaemia and a group of 91 population controls for two LPL gene mutations, D9N and N291S. LPL-D9N was found in two probands and one normolipidaemic population control. LPL-N291S was found in four probands and four population controls....
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