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Article

Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.

Clinical genetics - 1 May 2004

Leren T P

Abstract excerpt

Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In t...

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Source

Identifiers

PMID: 15099351
DOI: 10.1111/j.0009-9163.2004.0238.x

Genes

PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15099351-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.PMID 15099351Read ↗

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PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive SynopsisSemantic proximity Read ↗

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.Semantic proximity Read ↗

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Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia.Semantic proximity Read ↗

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.Semantic proximity Read ↗

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