Rare LPL gene missense mutation in an infant with hypertriglyceridemia.
Yuan-Yuan QinAi-Qiu WeiQing-Wen ShanXiao-Ying XianYang-Yang WuLin LiaoJie YanZhan-Feng LaiFa-Quan LinPublished in: Journal of clinical laboratory analysis (2018)
We have here identified a rare pathogenic mutation in the LPL gene in a Chinese infant with severe hypertriglyceridemia.