Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

doi:10.1016/j.jacc.2016.03.520

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Article

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal of the American College of Cardiology - 7 Jun 2016

Khera Amit V, Won Hong-Hee, Peloso Gina M, Lawson Kim S, Bartz Traci M, Deng Xuan, van Leeuwen Elisabeth M, Natarajan Pradeep, Emdin Connor A, Bick Alexander G, Morrison Alanna C, Brody Jennifer A, Gupta Namrata, Nomura Akihiro, Kessler Thorsten, Duga Stefano, Bis Joshua C, van Duijn Cornelia M, Cupples L Adrienne, Psaty Bruce, Rader Daniel J, Danesh John, Schunkert Heribert, McPherson Ruth, Farrall Martin, Watkins Hugh, Lander Eric, Wilson James G, Correa Adolfo, Boerwinkle Eric, Merlini Piera Angelica, Ardissino Diego, Saleheen Danish, Gabriel Stacey, Kathiresan Sekar

Abstract excerpt

BACKGROUND: Approximately 7% of American adults have severe hypercholesterolemia (untreated low-density lipoprotein [LDL] cholesterol ≥190 mg/dl), which may be due to familial hypercholesterolemia (FH). Lifelong LDL cholesterol elevations in FH mutation carriers may confer coronary artery disease (CAD) risk beyond that captured by a single LDL cholesterol measurement. OBJECTIVES: This study assessed the...

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Identifiers

PMID: 27050191
DOI: 10.1016/j.jacc.2016.03.520
PMCID: PMC5405769

Genes

CAD
LDLR
APOB
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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