Comparative analysis of the phenotypic predictors of mutations in familial hypercholesterolaemia: Standardizing diagnostic testing in the clinic
ATHEROSCLEROSIS(2018)
摘要
Aim: Diagnosis for familial hypercholesterolemia (FH) relies on the identification of a causative pathogenic mutation. However, genetic testing is not widely available. We compared the validity of the three clinical diagnostic tools and their individual components in predicting an FH-causing mutation.
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关键词
Hypercholesterolemia
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