Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants
Yuepeng Hu,
Jian-Min Chen,
Han Zuo
et al.
Abstract:Background
Lipoprotein lipase (LPL) plays a crucial role in triglyceride hydrolysis. Rare biallelic variants in the LPL gene leading to complete or near-complete loss of function cause autosomal recessive familial chylomicronemia syndrome. However, rare biallelic LPL variants resulting in significant but partial loss of function are rarely documented. This study reports a novel occurrence of such rare biallelic LPL variants in a Chinese patient with hypertriglyceridemia-induced acute pancreatit… Show more
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