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Article

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol.

Arteriosclerosis, thrombosis, and vascular biology - 1 Mar 2007

Fasano Tommaso, Cefalù Angelo B, Di Leo Enza, Noto Davide, Pollaccia Daniela, Bocchi Letizia, Valenti Vincenza, Bonardi Renato, Guardamagna Ornella, Averna Maurizio, Tarugi Patrizia

Abstract excerpt

OBJECTIVES: The PCSK9 gene, encoding a pro-protein convertase involved in posttranslational degradation of low-density lipoprotein receptor, has emerged as a key regulator of plasma low-density lipoprotein cholesterol. In African-Americans two nonsense mutations resulting in loss of function of PCSK9 are associated with a 30% to 40% reduction of plasma low-density lipoprotein cholesterol. The aim of this study...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17170371
DOI: 10.1161/01.ATV.0000255311.26383.2f

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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