LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL

LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL

Abstract Background Familial hypercholesterolemia (FH) is a prevalent hereditary disease that can cause aberrant cholesterol metabolism. In this study, we confirmed that c.415G > A in low-density lipoprotein receptor (LDLR), an FH-related gene, is a pathogenic variant in FH by in silico analysis...

Täydet tiedot

Bibliografiset tiedot
Päätekijät: Kaihan Wang, Tingting Hu, Mengmeng Tai, Yan Shen, Haocheng Chai, Shaoyi Lin, Xiaomin Chen
Aineistotyyppi: Artikkeli
Kieli:English
Julkaistu: BMC 2024-03-01
Sarja:Lipids in Health and Disease
Aiheet:
Familial hypercholesterolemia
Low-density lipoprotein receptor
Pathogenic variant
Functional study
Linkit:https://doi.org/10.1186/s12944-024-02068-2

Internet

https://doi.org/10.1186/s12944-024-02068-2

Samankaltaisia teoksia