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Article

Clinical and functional studies of two novel variants in the LPL gene in subjects with severe hypertriglyceridemia.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2018

Plengpanich Wanee, Kiateprungvej Arunrat, Charoen Supannika, Khovidhunkit Weerapan

Abstract excerpt

BACKGROUND: Two novel variants (p.Arg270Gly and p.Asp308Glyfs*3) in the LPL gene have recently been identified in subjects with hypertriglyceridemia (HTG). In this study, we investigated clinical and genetic features of their families and examined the functional significance of these two variants in vitro. METHODS: Clinical and genetic data were collected. Site-directed mutagenesis and transient expression in cld...

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Identifiers

PMID: 30179614
DOI: 10.1016/j.cca.2018.08.041

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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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