Ran Du, Liang-Liang Fan, Min-Jie Lin, Zhi-Jian He, Hao Huang, Ya-Qin Chen, Jing-Jing Li, Kun Xia, Shui-Ping Zhao, Rong Xiang
BACKGROUND: Familial hypercholesterolemia (FH) is the first molecularly and clinically characterized genetic disease of lipid metabolism. It is an autosomal dominant disorder with significantly elevated levels of total cholesterol and low density of lipoprotein cholesterol in serum, which would lead to extensive xanthomas and premature coronary heart disease. Mutations in low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 and Apo lipoprotein B-100 (APOB) have been identified to be the underlying cause of this disease...
2016: SpringerPlus