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Article

Identification of a mutation in the low density lipoprotein receptor gene associated with recessive familial hypercholesterolemia in swine.

American journal of medical genetics - 13 Apr 1998

Hasler-Rapacz J, Ellegren H, Fridolfsson A K, Kirkpatrick B, Kirk S, Andersson L, Rapacz J

Abstract excerpt

Elevated blood plasma cholesterol (hypercholesterolemia) is a major risk factor for coronary artery disease (CAD) in humans. Genetic dissection of polygenic lipid and lipoprotein disorders in swine, a key animal model for the study of familial hypercholesterolemia (FH) and CAD, led to the isolation of a monogenic subphenotype (FH-r), that is inherited in the recessive (r) manner. A genome scan mapped the FH-r...

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Identifiers

PMID: 9556295

Genes

LDLR
CAD

Variants

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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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