In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia

BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder with markedly elevated low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic cardiovascular disease. Although many mutations have been reported in FH, only a few have been identified as pathogenic mutations....

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Detalles Bibliográficos
Autores principales: Lin, Shaoyi, Hu, Tingting, Wang, Kaihan, Wang, Jiaqi, Zhu, Yunyun, Chen, Xiaomin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280840/
https://www.ncbi.nlm.nih.gov/pubmed/37340302
http://dx.doi.org/10.1186/s12944-023-01848-6

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