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Article

Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.

The Journal of clinical investigation - 1 Sept 1999

Norman D, Sun X M, Bourbon M, Knight B L, Naoumova R P, Soutar A K

Abstract excerpt

Familial hypercholesterolemia (FH) is characterized by a raised concentration of LDL in plasma that results in a significantly increased risk of premature atherosclerosis. In FH, impaired removal of LDL from the circulation results from inherited mutations in the LDL receptor gene or, more rarely, in the gene for apo B, the ligand for the LDL receptor. We have identified two unrelated clinically homozygous FH...

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Identifiers

PMID: 10487776
DOI: 10.1172/JCI6677
PMCID: PMC408536

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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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Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.PMID 10487776Read ↗

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