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The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia

BACKGROUND: As an autosomal dominant disorder, familial hypercholesterolemia (FH) is mainly attributed to disease-causing variants in the low-density lipoprotein receptor (LDLR) gene. The aim of this study was to explore the molecular mechanism of LDLR c.501C>A variant in FH and assess the effica...

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Detalles Bibliográficos
Autores principales:	Hu, Haochang, Chen, Ruoyu, Hu, Yingchu, Wang, Jian, Lin, Shaoyi, Chen, Xiaomin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8436568/ https://www.ncbi.nlm.nih.gov/pubmed/34511120 http://dx.doi.org/10.1186/s12944-021-01536-3

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