Journal of Human Genetics · 2011 · 42 citations · 19 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsMolecular PathologyGenetic DisordersMutation AnalysisVariant ClassificationVariant InterpretationWilson DiseaseCorrelationMutation Spectrum AnalysisPathogenic Variant AssociationPoint Mutation AnalysisWilson Disease Pathophysiology
19
The Metabolic Basis of Inherited Disease.
Annals of Internal Medicine · 1988 · 7.8K citations
The Metabolic Basis of Inherited Disease
Annals of Internal Medicine · 1990 · 4K citations
The Wilson disease gene: spectrum of mutations and their consequences
Gordon R. Thomas, John Forbes, Eve A. Roberts et al. · Nature Genetics · 1995 · 571 citations