Article
Hyperlipidemia patients carrying LDLR splicing mutation c.1187-2A>G respond favorably to rosuvastatin and PCSK9 inhibitor evolocumab.
Molecular genetics and genomics : MGG - 1 May 2022
Zhang Xiaoyu, Liu Qianqian, Zhang Hongfu, Tan Chengcheng, Zhu Qiangfeng, Chen Saiyong, Du Yinglong, Yang Haitao, Li Qingli, Xu Chengqi, Wu Chun, Wang Qing K
Abstract excerpt
Mutations in the LDL receptor gene LDLR cause familial hypercholesterolemia (FH); however, the pharmacogenomics of specific LDLR mutations remains poorly understood. The goals of this study were to identify the genetic cause of a three-generation Chinese family affected with autosomal dominant FH, and to investigate the response of FH patients in the family to statin and evolocumab. Whole exome sequencing of the...
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