Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. [electronic resource]
Producer: 20180830Description: 757 p. digitalISSN:- 2045-2322
- Alleles
- Alternative Splicing
- Amino Acid Substitution
- Biomarkers
- Copper -- metabolism
- Copper-Transporting ATPases -- genetics
- Fibroblasts
- Fluorescent Antibody Technique
- Humans
- Intracellular Space -- metabolism
- Menkes Kinky Hair Syndrome -- diagnosis
- Models, Biological
- Mutation, Missense
- Phenotype
- Phosphorylation
- Proteasome Endopeptidase Complex
- Protein Transport
- Proteolysis
- Severity of Illness Index
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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