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Article

Predicting proprotein convertase subtilisin kexin type-9 loss of function mutations using plasma PCSK9 concentration.

Journal of clinical lipidology - 1 Jan 2000

Wanneh Eric, Luna Grisel, Dufour Robert, Baass Alexis

Abstract excerpt

BACKGROUND: Low plasma proprotein convertase subtilisin kexin type-9 (PCSK9) concentration has been associated with loss of function (LOF) PCSK9 mutations in several studies. However, the current standard for detection of these LOF mutations is through gene sequencing. Gene sequencing is labor intensive and expensive. Identifying a simple test to help predict PCSK9 LOF mutations would help to better target...

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Source

Identifiers

PMID: 28391911
DOI: 10.1016/j.jacl.2016.09.015

Genes

PCSK9

Variants

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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