A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family

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 atherosclerosis. I...

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Veröffentlicht in:	Chinese medical journal 2010-05, Vol.123 (9), p.1133-1138
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Female Humans Hyperlipoproteinemia Type II - genetics Lipids - blood Male Mutation Pedigree Proprotein Convertase 9 Proprotein Convertases Serine Endopeptidases - genetics
Online-Zugang:	Volltext
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