Concepedia

Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

Jacques Simard, Sital Moorjani, Marie‐Claude Vohl, Patrick Couture, Ana Lucía Torres-Castillo, Claude Gagné, Jean‐Pierre Després, Fernand Labrie, Paul J. Lupien

Human Molecular Genetics · 1994 · 36 citations · 0 references

DOI

Concepts

MedicineGeneticsMolecular GeneticsCardiovascular GeneticsHuman GeneticsMedical GeneticsFamilial HypercholesterolemiaGenetic DisordersGenetic RiskLipid DisordersMendelian Cardiovascular DisordersMutation AnalysisGenetic Lipid DisordersLdl Receptor Gene MutationsLow-density Lipoprotein Receptor FamilyLow-density Lipoprotein Receptor GeneticsMutation

Abstract

Jacques Simard, Sital Moorjani, Marie-Claude Vohl, Patrick Couture, Ana L. Torres, Claude Gagné, Jean-Pierre Després, Fernand Labrie, Paul J. Lupien; Detection