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
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
The regulation of catalytic activity of the menkes copper-translocating P-type ATPase. Role of high affinity copper-binding sites.
Voskoboinik I et al.
The Journal of Biological Chemistry, 2001
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