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
34069220 (PubMed )
Supplement: genes-12-00744-s001.zip › genes-1168754-supplementary.pdf
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T et al.
Scientific Reports, 2017
Twenty-five novel mutations including duplications in the ATP7A gene.
Moizard MP et al.
Clinical Genetics, 2011
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Select a paper to view details