Concepedia

Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups

Hagar Kalinsky, Adina Funes, Alina Zeldin, Yehuda Pel‐Or, M. Korostishevsky, Ruth Gershoni‐Baruch, Lindsay A. Farrer, Batsheva Bonné‐Tamir

Human Mutation · 1998 · 11 citations · 0 references

Concepts

Life SciencesGeneticsMolecular GeneticsGenomicsMedical GeneticsMolecular DiagnosticsEnzyme DeficienciesGenetic DisordersNeurogenetic DisordersRare Disease GeneticsRare Disease GenomicsWilson DiseaseAtp7b FunctionAtp7b Gene MutationsAtpase Copper Transporting Beta (Atp7b)Pathogenic Variant AssociationWilson Disease Pathophysiology