Associated Papers
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
Fujisawa C et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
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
Functional copper transport explains neurologic sparing in occipital horn syndrome.
Tang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
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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