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

doi:10.1038/ejhg.2014.199

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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...

Topics

5' Untranslated Regions
Base Sequence
Cell Line, Tumor
Humans
Hypercholesterolemia
Molecular Sequence Data
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Receptors, LDL

Source

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Identifiers

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

Genes

FH
LDLR

Provenance

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