Article
Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.
Journal of clinical lipidology - 1 Jan 2000
De Castro-Orós Isabel, Civeira Fernando, Pueyo María Jesús, Mateo-Gallego Rocío, Bolado-Carrancio Alfonso, Lamíquiz-Moneo Itziar, Álvarez-Sala Luis, Fabiani Fernando, Cofán Montserrat, Cenarro Ana, Rodríguez-Rey José Carlos, Ros Emilio, Pocoví Miguel
Abstract excerpt
BACKGROUND: Most primary severe hypertriglyceridemias (HTGs) are diagnosed in adults, but their molecular foundations have not been completely elucidated. OBJECTIVE: We aimed to identify rare dysfunctional mutations in genes encoding regulators of lipoprotein lipase (LPL) function in patients with familial and non-familial primary HTG. METHODS: We sequenced promoters, exons, and exon-intron boundaries of LPL,...
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