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

Abstract 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 e...

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Autores principales:	Haochang Hu, Ruoyu Chen, Yingchu Hu, Jian Wang, Shaoyi Lin, Xiaomin Chen
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2021-09-01
Colección:	Lipids in Health and Disease
Materias:	Familial hypercholesterolemia Genetic diagnosis Whole-exome sequencing Heterogeneous genotype Homogeneous genotype PCSK9 inhibitor
Acceso en línea:	https://doi.org/10.1186/s12944-021-01536-3
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