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A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family

Familial hypercholesterolemia (FH) is an inherited disorder characterized by elevation of serum cholesterol bound to low-density lipoprotein. Mutations in LDLR are the major factors responsible for FH. In this study, we recruited a four-generation Chinese family with FH and identified the clinical f...

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Detalles Bibliográficos
Autores principales:	Shu, Hongyan, Chi, Jingwei, Li, Jing, Zhang, Wei, Lv, Wenshan, Wang, Jie, Deng, Yujie, Hou, Xu, Wang, Yangang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724832/ https://www.ncbi.nlm.nih.gov/pubmed/29228028 http://dx.doi.org/10.1371/journal.pone.0189316

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