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Article

Characterization of novel mutations in the catalytic domain of the PCSK9 gene.

Journal of internal medicine - 1 Apr 2008

Cameron J, Holla O L, Laerdahl J K, Kulseth M A, Ranheim T, Rognes T, Berge K E, Leren T P

Abstract excerpt

OBJECTIVES: To expand our understanding of the structure and function of proprotein convertase subtilisin/kexin type 9 (PCSK9) by studying how naturally occurring mutations in PCSK9 disrupt the function of PCSK9. DESIGN: Mutations in PCSK9 were identified by sequencing of DNA from subjects with hypo- or hypercholesterolemia. The effect of the identified mutations on the autocatalytic cleavage and secretion of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18266662
DOI: 10.1111/j.1365-2796.2007.01915.x

Genes

PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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