The genetic spectrum of familial hypercholesterolemia in the central south region of China
发布时间：2017-03-30
点击次数：
影响因子：3.919
所属单位：The State Key Laboratory of Medical Genetics & School of Life Sciences, Central South University
发表刊物：Atherosclerosis
关键字：APOB, Familial hypercholesterolemia, LDLR, Mutation spectrum, PCSK9
摘要：BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is the most common and severe autosomal dominant lipid metabolism dysfunction, which causes xanthoma, atherosclerosis and coronary heart disease. Earlier studies showed that mutations in LDLR, APOB and PCSK9 cause FH. Although more than 75% of the population in Europe has been scrutinized for FH-causing mutations, the genetic diagnosis proportion among Chinese people remains very low (less than 0.5%). The aim of this study was to perform a survey and mutation detection among the Chinese population. METHODS: 219 FH patients from the centra
合写作者：Zhao S P, Xia K, Chen Y Q, Liu Y X, Jin J Y, Shi X Y, Li J J, Lin M J, Fan L L, Xiang R
论文类型：基础研究
学科门类：生物学
文献类型：J
卷号：258
页面范围：84-88
ISSN号：0021-9150
是否译文：否
发表时间：2017-03-01
收录刊物：SCI
发布期刊链接：http://www.sciencedirect.com/science/article/pii/S002191501730059X