Article
Clinical features and functions of a novel Lpl mutation C.986A>C (p.Y329S) in patient with hypertriglyceridemia.
Current research in translational medicine - 1 Sept 2022
Feng Lingling, Sun Yujing, Liu Fuqiang, Wang Chuan, Zhang Chao, Liu Jidong, Jiang Ling
Abstract excerpt
OBJECTIVE: To investigate and assess the clinical features and functions of a new lipoprotein lipase (Lpl) gene mutation c.986A>C (p.Y329S) found in hypertriglyceridemia(HTG) patients from a Chinese family. METHODS: Five members of a family with the proband were diagnosed with HTG were investigated, and fasting peripheral blood was collected . The plasma was then used to measure triglycerides (TG), total...
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