Article
[Identification of variants in LMF1 gene associated with primary hypertriglyceridemia].
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis - 1 Jan 2000
Lamiquiz-Moneo Itziar, Bea Ana M, Mateo-Gallego Rocío, Baila-Rueda Lucía, Cenarro Ana, Pocoví Miguel, Civeira Fernando, de Castro-Orós Isabel
Abstract excerpt
The majority of severe primary hypertriglyceridemia (HTG) are diagnosed in adults, and their molecular bases have not yet been fully defined. The promoter, coding regions and intron-exon boundaries of LMF1 were sequenced in 112 patients with severe primary hipertrigliceridemia (defined as TG above 500mg/dl). Five patients (4.46%) were carriers of four rare variants in the LMF1 gene associated with HTG, which...
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