Article
[Molecular genetics of hypercholesterolemia].
Vnitrni lekarstvi - 1 Jan 2000
Schwarzová Lucie
Abstract excerpt
The review focuses on the molecular background of an inborn error of lipid metabolism -familial hypercholesterolemia. FH describes a group of genetic defects resulting in severe elevations of blood cholesterol levels and increased risk of premature coronary heart disease. Most cases are due to the mutations decreasing and/or destroying the function of the LDL receptor (85-90 % of cases), smaller portion of cases...
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