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Article

A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome.

Journal of clinical lipidology - 1 Jan 2000

Paquette Martine, Hegele Robert A, Paré Guillaume, Baass Alexis

Abstract excerpt

Familial chylomicronemia syndrome is characterized by severe elevation in serum triglycerides and an increased risk of acute pancreatitis. Although familial chylomicronemia syndrome is mainly caused by mutations in the lipoprotein lipase (LPL) gene, few causal mutations in other genes (ie, APOC2, APOA5, LMF1, and GPIHBP1) have also been reported. In this case report, we present the discovery of a novel mutation...

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Source

Identifiers

PMID: 29452893
DOI: 10.1016/j.jacl.2018.01.011

Genes

GPIHBP1
APOA5
APOC2
LMF1
LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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