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Article

Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2020

Ariza María José, Pérez-López Carmen, Almagro Fátima, Sánchez-Tévar Ana María, Muñiz-Grijalvo Ovidio, Álvarez-Sala Walter Luis Antonio, Rioja José, Sánchez-Chaparro Miguel Ángel, Valdivielso Pedro

Abstract excerpt

INTRODUCTION: Pathogenic variants in lipoprotein lipase (LPL) and glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) have been described in patients with severe hypertriglyceridaemia. We aimed to optimise high resolution melting (HRM) assays to detect the presence of functional variants in these genes. METHODS: One hundred and sixteen patients with severe...

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PMID: 31669931
DOI: 10.1016/j.cca.2019.10.011

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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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