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Article

A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.

The Journal of clinical endocrinology and metabolism - 1 Sept 2008

Blesa Sebastian, Vernia Santiago, Garcia-Garcia Ana-Barbara, Martinez-Hervas Sergio, Ivorra Carmen, Gonzalez-Albert Veronica, Ascaso Juan Francisco, Martín-Escudero Juan Carlos, Real Jose Tomas, Carmena Rafael, Casado Marta, Chaves Felipe Javier

Abstract excerpt

CONTEXT: Autosomal dominant hypercholesterolemia (ADH) is a genetic disorder characterized by increased low-density lipoprotein (LDL)-cholesterol levels, leading to high risk of premature cardiovascular disease. More than 900 mutations in LDL receptor, six in APOB and 10 in PCSK9 have been identified as a cause of the disease in different populations. All known mutations in PCSK9 causing hypercholesterolemia...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18559913
DOI: 10.1210/jc.2008-0269

Genes

PCSK9
APOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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