Associated Papers
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T et al.
Scientific Reports, 2017
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
de Bie P et al.
Journal of Medical Genetics, 2007
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Møller LB et al.
Human Mutation, 2005
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