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Article

Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.

European journal of human genetics : EJHG - 1 Jun 2015

Khamis Amna, Palmen Jutta, Lench Nick, Taylor Alison, Badmus Ebele, Leigh Sarah, Humphries Steve E

Abstract excerpt

Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disease characterised by increased low-density lipoprotein cholesterol (LDL-C) levels. The functionality of four novel variants within the LDLR 5'UTR and promoter located at c.-13A>G, c.-101T>C, c.-121T>C and c.-215A>G was investigated using in silico and in vitro assays, and a systemic bioinformatics analysis of all 36 reported promoter...

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

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Source

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Identifiers

PMID: 25248394
DOI: 10.1038/ejhg.2014.199
PMCID: PMC4277481

Genes

FH
LDLR

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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