Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2020.09.004
Abstract: Severe hypertriglyceridemia (HTG), characterized by triglycerides (TG) permanently over 10 mmol/L, may correspond to familial chylomicronemia syndrome (FCS), a rare disorder. However, hypertriglyceridemic patients more often present multifactorial chylomicronemia syndrome (MCS), characterized by highly variable TG.… read more here.
Keywords: severe hypertriglyceridemia; intermittent severe; lmf1 gene; deletion ... See more keywords
Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100576
Abstract: 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… read more here.
Keywords: severe hypertriglyceridemia; genetic functional; lmf1 gene; severe htg ... See more keywords