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Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia

Liu Yanrong, Tao Qianmin, Chen Junzhu, Tao Ming, Guo Xiaogang, Shang Yunpeng, Zhu Jianhua, Zhang Furong, Zheng Liangrong, Wang Xingxiang

Department of Cardiovascular Diseases, the First Affiliated Hospital, Medical School of Zhejiang University. Hangzhou 310003, China；Institute of Gene & Biology Information, China Academy of Sciences. Beijing 100023, China

Abstract

Family hypercholesterolemia (FH) is a Genetic disorder caused by mutation in the low density lipoprotein receptor (LDLR) gene. It is characterized by a high concentration of low density lipoprotein (LDL). Which frequently gives rsie to tendon xanthenes and premature coronary artery disease. We studied a FH family, Which was diagnosed by clinical features and bolld lipid tests.

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Citing This Article：

Liu Yanrong, Tao Qianmin, Chen Junzhu, Tao Ming, Guo Xiaogang, Shang Yunpeng, Zhu Jianhua, Zhang Furong, Zheng Liangrong, Wang Xingxiang. Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia. Acta Physiol Sin 2004; 56 (5): (in Chinese with English abstract).