Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference59 articles.
1. Defective Copper-Induced Trafficking and Localization of the Menkes Protein in Patients With Mild and Copper-Treated Classical Menkes Disease
2. The catalytic domain of the P-type ATPase has the haloacid dehalogenase fold
3. Identification of Ion-Selectivity Determinants in Heavy-Metal Transport P 1B -type ATPases
4. Evolution of Substrate Specificities in the P-Type ATPase Superfamily
5. Structure–function analysis of purified Enterococcus hirae CopB copper ATPase: effect of Menkes/Wilson disease mutation homologues
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1. Early clinical signs and treatment of Menkes disease;Molecular Genetics and Metabolism Reports;2022-06
2. Supply chain logistics – the role of the Golgi complex in extracellular matrix production and maintenance;Journal of Cell Science;2022-01-01
3. Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms—a case report;Translational Pediatrics;2021-07
4. Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease;Genes;2021-05-14
5. Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15;Frontiers in Molecular Neuroscience;2021-04-21
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