Article
Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees.
Journal of lipid research - 1 Aug 2007
Hu Yaomin, Ren Yan, Luo Robert Z, Mao Xiang, Li Xiujun, Cao Xu, Guan Lu, Chen Xiang, Li Jianwei, Long Yang, Zhang Xiangxun, Tian Haoming
Abstract excerpt
Increased plasma triglyceride and free fatty acid levels are frequently associated with type 2 diabetes mellitus (T2DM). To test the hypothesis that LPL gene mutations contribute to the hypertriglyceridemia observed in members of T2DM pedigrees, we screened the LPL gene in 53 hypertriglyceridemic members of 26 families. Four known and three novel mutations were identified. All three novel mutations, Lys312insC,...
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