Article
Diagnosing familial hypercholesterolaemia: the relevance of genetic testing.
European heart journal - 1 Sept 2006
van Aalst-Cohen Emily S, Jansen Angelique C M, Tanck Michael W T, Defesche Joep C, Trip Mieke D, Lansberg Peter J, Stalenhoef Anton F H, Kastelein John J P
Abstract excerpt
AIMS: We assembled a cohort of patients with familial hypercholesterolaemia (FH) for both basic and clinical research. We used a set of established diagnostic criteria to define FH. Some put forward that a definite diagnosis of FH is made when a mutation in the LDL-receptor (LDLR) gene is identified. We therefore set out to determine in these patients whether patients with a DNA diagnosis would differ...
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