Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41473288 (PubMed )
Supplement: media-2.xlsx › SuppTable2
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
Combination of His-tagged T4 endonuclease VII with microplate array diagonal gel electrophoresis for high-throughput mutation scanning.
Smith MJ et al.
Clinical Chemistry, 2005
Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
Kim JH et al.
Molecules and Cells, 2004
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