Associated Papers
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Deletion of GPIHBP1 causing severe chylomicronemia.
Rios JJ et al.
Journal of Inherited Metabolic Disease, 2012
Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
Tosi I et al.
Atherosclerosis, 2007
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.
Alharbi KK et al.
Genome Research, 2005
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
Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland.
McClean E et al.
British Journal of Biomedical Science, 1999
Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group.
Sun XM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 1997
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
Day IN et al.
Human Mutation, 1997
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