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Article

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

European journal of human genetics : EJHG - 1 Jan 2009

Snozek Christine L H, Lagerstedt Susan A, Khoo Teck K, Rubenfire Melvyn, Isley William L, Train Laura J, Baudhuin Linnea M

Abstract excerpt

Familial hypercholesterolemia (FH) is the most common form of autosomal-dominant hypercholesterolemia, and is caused by mutations in the low-density lipoprotein receptor (LDLR) gene. Heterozygous FH is characterized by elevated low-density lipoprotein (LDL) cholesterol and early-onset cardiovascular disease, whereas homozygous FH results in more severe LDL cholesterol elevation with death by 20 years of age. We...

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Share to Apolipoproteins B
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Rearrangement

Share to Hyperlipoproteinemia Type II

Share to Proprotein Convertase 9

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Source

Open in PubMed Open full text

Identifiers

PMID: 18648394
DOI: 10.1038/ejhg.2008.138
PMCID: PMC2985960

Genes

LDLR
APOB
PCSK9

Provenance

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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