Article
Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.
Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 Jul 2009
Wang L, Lin J, Liu S, Cao S, Liu J, Yong Q, Yang Y, Wu B, Pan X, Du L, Wu C, Qin Y, Chen B
Abstract excerpt
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism caused by mutations in the low-density lipoprotein receptor (LDL-R) gene, leading to elevated levels of cholesterol and an increased risk of coronary heart disease. In this article, from four homozygous FH phenotype probands we identified disease causing mutations and analyzed the relationship...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.