Associated Papers
Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.
Islam MM et al.
Jacc. Basic to Translational Science, 2025
40131152 (PubMed )
Supplement: mmc1.pdf
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
35863433 (PubMed )
Supplement: mmc4.xlsx › -1_position
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
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
Humphries SE et al.
Current Opinion in Lipidology, 2008
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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