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

Internet

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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