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Article

Familial hypercholesterolaemia and LDL receptor mutations.

Journal of internal medicine - 1 Jun 1992

Soutar A K

Abstract excerpt

Inherited defects in the gene for the low density lipoprotein (LDL)-receptor give rise to familial hypercholesterolaemia (FH), a disorder in which defective catabolism of LDL causes a marked increase in its concentration in plasma. As a result, there is excessive deposition of cholesterol in the arterial wall leading to accelerated atherosclerosis and premature coronary heart disease in most patients, although...

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Source

Identifiers

PMID: 1619386
DOI: 10.1111/j.1365-2796.1992.tb01252.x

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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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