Functional Characterization of Two Low-Density Lipoprotein Receptor Gene Mutations in Two Chinese Patients with Familial Hypercholesterolemia

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disease that primarily results from mutations in the low-density lipoprotein receptor (LDLR) gene. We investigated two unrelated Chinese FH patients using gene screening and functional analysis to reveal the pathogenicity and th...

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Detalles Bibliográficos
Autores principales: Wang, Haihong, Xu, Shengyuan, Sun, Liyuan, Pan, Xiaodong, Yang, Shiwei, Wang, Luya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966815/
https://www.ncbi.nlm.nih.gov/pubmed/24671153
http://dx.doi.org/10.1371/journal.pone.0092703

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966815/
https://www.ncbi.nlm.nih.gov/pubmed/24671153
http://dx.doi.org/10.1371/journal.pone.0092703

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