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Article

Genetic testing for a patient with suspected familial hypercholesterolaemia.

BMJ case reports - 19 Jul 2018

Mudgundi Venugopal, Williams Geoffrey, Manou Katherine, Block Robert

Abstract excerpt

Familial hypercholesterolaemia (FH) is a genetic condition that results in elevated low-density lipoprotein (LDL) cholesterol (LDL-C) levels with consequent increased risk for premature cardiovascular disease events. Although it is considered an autosomal-dominant genetic condition, the underlying genetic causes of FH can be complex. Currently most guidelines rely on clinical criteria to diagnose FH. But this...

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Identifiers

PMID: 30030251
DOI: 10.1136/bcr-2018-225259
PMCID: PMC6058112

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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