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Article

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

Atherosclerosis - 1 Jul 2015

Rabacchi Claudio, Pisciotta Livia, Cefalù Angelo B, Noto Davide, Fresa Raffaele, Tarugi Patrizia, Averna Maurizio, Bertolini Stefano, Calandra Sebastiano

Abstract excerpt

BACKGROUND: Monogenic hypertriglyceridemia (HTG) may result from mutations in some genes which impair the intravascular lipolysis of triglyceride (TG)-rich lipoproteins mediated by the enzyme Lipoprotein lipase (LPL). Mutations in the LPL gene are the most frequent cause of monogenic HTG (familial chylomicronemia) with recessive transmission. METHODS: The LPL gene was resequenced in 149 patients with severe HTG...

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Source

Identifiers

PMID: 25966443
DOI: 10.1016/j.atherosclerosis.2015.04.815

Genes

LPL

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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