Associated Papers
Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.
Martinez-Fierro ML et al.
Genes, 2021
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
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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