Optimisation of mutation prediction in suspected familial hypercholesterolaemia
Pathology(2022)
摘要
Background: Familial hypercholesterolaemia (FH) mutation positive subjects have double the cardiovascular risk of low-density-lipoprotein-cholesterol (LDL-C) matched controls and are able to undergo cascade family screening. For best targeting of resources, it is desirable to assign an optimal strategy for mutation detection.
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