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

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

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...

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Bibliographic Details
Main Authors: Weirong Jin, Qiuwang Zhang, Bei Wang, Lili Pan, Hongyou Qin, Daying Yang, Xiangqun Zhou, Yongcai Du, Ling Lin, Michael J. Kutryk
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Medical Genetics
Subjects:
Familial hypercholesterolemia
Cascade screening
C308Y mutation
Low density lipoprotein-cholesterol
Low density lipoprotein receptor
DNA sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-019-0901-0

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