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Article

Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations.

Arteriosclerosis, thrombosis, and vascular biology - 1 Jan 2005

Tybjaerg-Hansen Anne, Jensen Henrik Kjaerulf, Benn Marianne, Steffensen Rolf, Jensen Gorm, Nordestgaard Børge G

Abstract excerpt

BACKGROUND: The effect of mutations on phenotype is often overestimated because of ascertainment bias. We determined the effect of background population on cholesterol phenotype associated with specific mutations in the low-density lipoprotein (LDL) receptor and the relative importance of backgro...

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Source

Identifiers

PMID: 15528480
DOI: 10.1161/01.ATV.0000149380.94984.f0

Genes

APOB
LDLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15528480-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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