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
Targeted next generation sequencing for newborn screening of Menkes disease.
Parad RB et al.
Molecular Genetics and Metabolism Reports, 2020
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T et al.
Scientific Reports, 2017
Mottled Mice and Non-Mammalian Models of Menkes Disease.
Lenartowicz M et al.
Frontiers in Molecular Neuroscience, 2015
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
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