Why the study?
Do LPL gene mutations D9N and N291S cause familial combined hyperlipidaemia or affect lipid phenotypes?
Population
28 probands with familial combined hyperlipidaemia and 91 normolipidaemic population controls, followed by…
Comparison
Presence of lipoprotein lipase gene mutations… vs Non-carriers of the LPL gene mutations
Design
Case-control
Authors
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D9N/N291S mutations should not yet inform FCH diagnosis or management; leaves open their potential modifier effects on lipid phenotypes.
Do LPL gene mutations D9N and N291S cause familial combined hyperlipidaemia or affect lipid phenotypes?
LPL gene mutations D9N and N291S do not appear to be the primary cause of familial combined hyperlipidaemia but significantly modify lipid and apolipoprotein phenotypes.
Bruin et al. (1996) studied this question.
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