Article
Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China.
BMC medical genetics - 9 Nov 2019
Jin Weirong, Zhang Qiuwang, Wang Bei, Pan Lili, Qin Hongyou, Yang Daying, Zhou Xiangqun, Du Yongcai, Lin Ling, Kutryk Michael J
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH), an autosomal dominant genetic disorder, is underdiagnosed and undertreated. The majority of FH cases are caused by low density lipoprotein receptor (LDL-R) gene mutations. The C308Y mutation in LDL-R results in approximately 70% loss of LDL-R activity, leading to the elevation of low density lipoprotein-cholesterol (LDL-C) and an increased risk of premature coronary...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.