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

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,...

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Detalles Bibliográficos
Autores principales: Jin, Weirong, Zhang, Qiuwang, Wang, Bei, Pan, Lili, Qin, Hongyou, Yang, Daying, Zhou, Xiangqun, Du, Yongcai, Lin, Ling, Kutryk, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842482/
https://www.ncbi.nlm.nih.gov/pubmed/31706281
http://dx.doi.org/10.1186/s12881-019-0901-0

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