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Article

Functional analysis from ex-vivo characterization of LDLR exon 13-15 duplication associated to familial hypercholesterolemia.

Frontiers in endocrinology - 1 Jan 2026

Martínez Catalina, Alarcón Carolina, Radojkovic Claudia, Cid Andrea, Vilches Noemí, Guzman-Gutiérrez Enrique, Saez Katia, Alonso Rodrigo, Sánchez Andrea

Abstract excerpt

Background: Familial hypercholesterolemia (FH) is an inherited semidominant disorder characterized by high plasma cholesterol levels and increased risk of premature cardiovascular disease. More than 3,000 low-density lipoprotein receptor (LDLR) variants have been identified, most lack functional evidence to determine their pathogenicity. One of them is the exon13_15dup, the most frequent FH-causing variant in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41869034
DOI: 10.3389/fendo.2026.1733372
PMCID: PMC13002427

Genes

LDLR
FH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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