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Article

Genetic and molecular architecture of familial hypercholesterolemia.

Journal of internal medicine - 1 Feb 2023

Abifadel Marianne, Boileau Catherine

Abstract excerpt

Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely underdiagnosed worldwide. It is one of the most frequently inherited diseases due to mutations, for autosomal dominant forms, in either of the LDLR, APOB, and PCSK9 genes or possibly a few mutations in...

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Identifiers

PMID: 36196022
DOI: 10.1111/joim.13577
PMCID: PMC10092380

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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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