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Article

Genetic and structure-function studies of missense mutations in human endothelial lipase.

PloS one - 1 Jan 2013

Razzaghi Hamid, Tempczyk-Russell Anna, Haubold Kurt, Santorico Stephanie A, Shokati Touraj, Christians Uwe, Churchill Mair E A

Abstract excerpt

Endothelial lipase (EL) plays a pivotal role in HDL metabolism. We sought to characterize EL and its interaction with HDL as well as its natural variants genetically, functionally and structurally. We screened our biethnic population sample (n = 802) for selected missense mutations (n = 5) and identified T111I as the only common variant. Multiple linear regression analyses in Hispanic subjects revealed an...

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Identifiers

PMID: 23536757
DOI: 10.1371/journal.pone.0055716
PMCID: PMC3607615

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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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