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

• Main Authors: Weirong Jin (Author), Qiuwang Zhang (Author), Bei Wang (Author), Lili Pan (Author), Hongyou Qin (Author), Daying Yang (Author), Xiangqun Zhou (Author), Yongcai Du (Author), Ling Lin (Author), Michael J. Kutryk (Author)
• Format: Book
• Published: BMC, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 a...