Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.


BACKGROUND/OBJECTIVE Familial Hypercholesterolaemia (FH) is caused by mutations in genes of the Low Density Lipoprotein (LDL) receptor pathway. A definitive diagnosis of FH can be made by the demonstration of a pathogenic mutation. The Wales FH service has developed scoring criteria to guide selection of patients for DNA testing, for those referred to… (More)
DOI: 10.1016/j.atherosclerosis.2015.03.003


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