Associated Papers
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf
Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.
Benedek P et al.
Journal of Internal Medicine, 2021
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.
Holla ØL et al.
Molecular Genetics and Metabolism, 2009
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
Brusgaard K et al.
Clinical Genetics, 2006
Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.
Hattori H et al.
Journal of Human Genetics, 2002
Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.
Rødningen OK et al.
Human Mutation, 1999
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