Associated Papers
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
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.
Bourbon M et al.
Current Opinion in Lipidology, 2017
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
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
Usifo E et al.
Annals of Human Genetics, 2012
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