Abstract
Aim: LMF1 (Lipase Maturation Factor 1) gene encodes for a protein involved Lipoprotein Lipase and Hepatic lipase maturation. Mutations on LMF1 leading to hyperchylomicronemia are rare in literature. A few polymorphisms have been described with poor functional studies. The aim of our study was to assess the frequency of LMF1 variants in a cohort of 410 hyperchylomicronemic patients with no deleterious mutations identified in LPL, APOA5, APOC2, GPIHBP1 genes.
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