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Article

A Comparative Analysis of Phenotypic Predictors of Mutations in Familial Hypercholesterolemia.

The Journal of clinical endocrinology and metabolism - 1 Apr 2018

Chan Dick C, Pang Jing, Hooper Amanda J, Bell Damon A, Bates Timothy R, Burnett John R, Watts Gerald F

Abstract excerpt

Context: The gold standard for diagnosing familial hypercholesterolemia (FH) is identification of a causative pathogenic mutation. However, genetic testing is expensive and not widely available. Objective: To compare the validity of the Dutch Lipid Clinic Network (DLCN), Simon Broome (SB), Make Early Diagnosis to Prevent Early Deaths (MEDPED), and American Heart Association (AHA) criteria in predicting an...

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Identifiers

PMID: 29408959
DOI: 10.1210/jc.2017-02622

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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