Ontology highlight
ABSTRACT:
SUBMITTER: Plengpanich W
PROVIDER: S-EPMC7068683 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Plengpanich Wanee W Muanpetch Suwanna S Charoen Supannika S Kiateprungvej Arunrat A Khovidhunkit Weerapan W
Molecular genetics and metabolism reports 20200310
Severe hypertriglyceridemia (HTG) due to chylomicronemia is associated with acute pancreatitis and is related to genetic disturbances in several proteins involved in triglyceride (TG) metabolism. Lipase maturation factor 1 (LMF1) is a protein essential for the maturation of lipoprotein lipase (LPL). In this study, we examined the genetic spectrum of the <i>LMF1</i> gene among subjects with severe HTG and investigated the functional significance of 6 genetic variants <i>in vitro</i>. All 11 exons ...[more]