Concepedia

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

Steve E. Humphries, Treena Cranston, Marcus Allen, Helen Middleton‐Price, M Caggiano Fernandez, Victoria Senior, Emma Hawe, Andrew Iversen, Richard Wray, Martin Crook,

Journal of Molecular Medicine · 2005 · 70 citations · 44 references

Concepts

MedicineCardiologyGeneticsCardiovascular GeneticsHuman GeneticsMedical GeneticsFamilial HypercholesterolemiaGenetic DisordersGenetic RiskGenotype-phenotype Association AnalysisLipid DisordersMutation AnalysisClinical Genetic DiagnosisGenetic Lipid DisordersMutational Spectrum AnalysisPhenotypic Diagnosis

References

44

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Life Sciences, Genetics, Molecular Genetics +13

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations

Life Sciences, Genetics, Molecular Genetics +10

The metabolic basis of inherited disease

JL Goldstein · Medical Entomology and Zoology · 1995 · 1K citations

Life Sciences, Genetics, Molecular Genetics +13

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group.

Margaret Thorogood · BMJ · 1991 · 817 citations · Full text

Medicine, Cardiology, Health Sciences +17

Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein

Christine Kim Garcia, Kenneth R. Wilund, Marcello Arca et al. · Science · 2001 · 611 citations

Life Sciences, Genetics, Molecular Genetics +17