Article
Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.
Chinese medical journal - 5 May 2008
Lin Jie, Wang Lu-ya, Liu Shu, Xia Jun-hui, Yong Qiang, Du Lan-ping, Pan Xiao-dong, Xue Hong, Chen Bao-sheng, Jiang Zhi-sheng
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH), caused by low density lipoprotein (LDL) receptor (LDL-R) gene mutations, is associated with increased risk of premature coronary heart disease. Until now, limited molecular data concerning FH are available in China. The present study described the c...
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