Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China

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 ...

Source: BMC Medical Genetics - November 9, 2019 Category: Genetics & Stem Cells Authors: Weirong Jin, Qiuwang Zhang, Bei Wang, Lili Pan, Hongyou Qin, Daying Yang, Xiangqun Zhou, Yongcai Du, Ling Lin and Michael J. Kutryk Tags: Research article Source Type: research