Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia

Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2, APOA5, LMF1 or GPIHBP1 genes. The aim of this study was to identify novel variants in the LPL gene causing lipoprotein lipase deficiency and to understand the molecular mechanisms.

Source: Nutrition, Metabolism, and Cardiovascular Diseases : NMCD - November 21, 2017 Category: Nutrition Authors: Caddeo Andrea, Mancina Rosellina Margherita, Pirazzi Carlo, Russo Cristina, Sasidharan Kavitha, Sandstedt Joakim, Maurotti Samantha, Montalcini Tiziana, Pujia Arturo, Trond P. Leren, Romeo Stefano, Pingitore Piero Source Type: research