Associated Papers
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.
Wang K et al.
Lipids in Health and Disease, 2024
38515137 (PubMed )
Supplement: 12944_2024_2068_MOESM4_ESM.pdf
In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia.
Lin S et al.
Lipids in Health and Disease, 2023
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