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Article

The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats.

Current atherosclerosis reports - 19 May 2018

Hooper Amanda J, Burnett John R, Bell Damon A, Watts Gerald F

Abstract excerpt

PURPOSE OF REVIEW: We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS: The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29779130
DOI: 10.1007/s11883-018-0731-0

Genes

ABCG5
APOE
LIPA

Provenance

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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