Open AccessA Comparative Analysis of Phenotypic Predictors of Mutations in Familial Hypercholesterolemia
Author(s) -
Dick C. Chan,
Jing Pang,
Amanda J. Hooper,
Damon A. Bell,
Timothy R. Bates,
John R. Burnett,
Gerald F. Watts
Publication year - 2018
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2017-02622
Subject(s) - concordance , medicine , familial hypercholesterolemia , mutation , cohort , area under the curve , gastroenterology , family history , odds ratio , cholesterol , endocrinology , genetics , biology , gene
The gold standard for diagnosing familial hypercholesterolemia (FH) is identification of a causative pathogenic mutation. However, genetic testing is expensive and not widely available.
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