Clinica Chimica Acta · 2006 · 21 citations · 23 references
MedicineGeneticsMolecular GeneticsCardiovascular GeneticsHuman GeneticsMedical GeneticsFamilial HypercholesterolemiaGenetic RiskGenotype-phenotype CorrelationLipid DisordersLipid Metabolism DisordersMendelian Cardiovascular DisordersGenetic Lipid DisordersLdl Receptor Gene MutationsLow-density Lipoprotein Receptor FamilyLow-density Lipoprotein Receptor GeneticsLow-density Lipoprotein Receptor PathwayMutational Burden HeterogeneityMutational Load
23
The Metabolic Basis of Inherited Disease.
Annals of Internal Medicine · 1988 · 7.8K citations
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations
The Metabolic Basis of Inherited Diseases
R.K. Winkelmann · Archives of Dermatology · 1972 · 1.8K citations