Article
A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family.
Chinese medical journal - 5 May 2010
Lin Jie, Wang Lu-ya, Liu Shu, Wang Xu-min, Yong Qiang, Yang Ya, DU Lan-ping, Pan Xiao-dong, Wang Xu, Jiang Zhi-sheng
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal disorder associated with elevated plasma low density lipoprotein (LDL) levels leading to premature coronary heart disease (CHD). As a result of long-term hyperlipemia, FH patients will present endarterium thickening and artherosclerosis. In the present study we scanned the related gene of a clinically diagnosed autosomal genetic hypercholesterolemia...
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