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Article

Familial hypercholesterolaemia: mutations in the gene for the low-density-lipoprotein receptor.

Molecular medicine today - 1 May 1995

Soutar A K

Abstract excerpt

Familial hypercholesterolaemia is a co-dominant inherited disorder of lipoprotein metabolism, in which defects in the gene for the low-density-lipoprotein (LDL) receptor result in a twofold increase in the plasma concentration of cholesterol and moderate-to-severe premature coronary heart disease. Many mutations in the gene for the LDL receptor that have different effects on the structure and function of this...

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PMID: 17607901
DOI: 10.1016/s1357-4310(95)92412-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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