Associated Papers
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R et al.
Jacc. Basic to Translational Science, 2023
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
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
Medeiros AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.
Laurie AD et al.
Atherosclerosis. Supplements, 2004
Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.
Bunn CF et al.
Human Mutation, 2002
The molecular basis of familial hypercholesterolemia in The Netherlands.
Fouchier SW et al.
Human Genetics, 2001
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
Ebhardt M et al.
Human Mutation, 1999
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.
Varret M et al.
Nucleic Acids Research, 1998
Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants.
Graça R et al.
Journal of Clinical Lipidology, 0
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