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Article

Mechanisms of disease: genetic causes of familial hypercholesterolemia.

Nature clinical practice. Cardiovascular medicine - 1 Apr 2007

Soutar Anne K, Naoumova Rossi P

Abstract excerpt

Familial hypercholesterolemia (FH) is characterized by raised serum LDL cholesterol levels, which result in excess deposition of cholesterol in tissues, leading to accelerated atherosclerosis and increased risk of premature coronary heart disease. FH results from defects in the hepatic uptake and degradation of LDL via the LDL-receptor pathway, commonly caused by a loss-of-function mutation in the LDL-receptor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17380167
DOI: 10.1038/ncpcardio0836

Genes

PCSK9
APOB
LDLR
LDLRAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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