Identification and Functional Characterization of a Low-Density Lipoprotein Receptor Gene Pathogenic Variant in Familial Hypercholesterolemia

We report a single-point variant of low-density lipoprotein receptor (LDLR) in a Chinese proband with a clinical diagnosis of familial hypercholesterolemia (FH) with a comprehensive functional analysis. Target exome capture-based next-generation sequencing was used for sequencing and identification...

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Detalles Bibliográficos
Autores principales: Shu, Hong-Yan, Zhang, Wei, Zheng, Cong-Cong, Gao, Man-Yun, Li, Yong-Cun, Wang, Yan-Gang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419346/
https://www.ncbi.nlm.nih.gov/pubmed/34497632
http://dx.doi.org/10.3389/fgene.2021.650077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419346/
https://www.ncbi.nlm.nih.gov/pubmed/34497632
http://dx.doi.org/10.3389/fgene.2021.650077

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