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Article

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.

PloS one - 1 Jan 2014

Etxebarria Aitor, Benito-Vicente Asier, Alves Ana C, Ostolaza Helena, Bourbon Mafalda, Martin Cesar

Abstract excerpt

Familial hypercholesterolemia (FH) is a common autosomal codominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is most commonly mutations within the LDLR gene. Assessing the pathogenicity of LDLR variants is particularly important to give a patient a definitive diagnosis of FH. Current studies of LDLR activity ex vivo are based on the analysis of 125I-labeled...

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Source

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Identifiers

PMID: 25386756
DOI: 10.1371/journal.pone.0112677
PMCID: PMC4227843

Genes

LDLR

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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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Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.PMID 25386756Read ↗

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