Associated Papers
Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.
Hu YN et al.
Plos One, 2024
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.
Strøm TB et al.
Human Molecular Genetics, 2015
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
Nauck MS et al.
Human Mutation, 2001
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