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Article

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American journal of human genetics - 1 Mar 2006

Kotowski Ingrid K, Pertsemlidis Alexander, Luke Amy, Cooper Richard S, Vega Gloria L, Cohen Jonathan C, Hobbs Helen H

Abstract excerpt

Selected missense mutations in the proprotein convertase subtilisin/kexin type 9 serine protease gene (PCSK9) cause autosomal dominant hypercholesterolemia, whereas nonsense mutations in the same gene are associated with low plasma levels of low-density lipoprotein cholesterol (LDL-C). Here, DNA...

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Share to Cholesterol, LDL
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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: 16465619
DOI: 10.1086/500615
PMCID: PMC1380285

Genes

PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16465619-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.PMID 16465619Read ↗

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