Stephen G Kaler Jingrong Tang Anthony Donsante Christine R Kaneski
10.1002/ana.21576
Ann Neurol
2009 Jan;65(1):108-13.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/19194885/
Adenosine Triphosphatases / genetics Cation Transport Proteins / genetics Codon, Nonsense / genetics Menkes Kinky Hair Syndrome / genetics
Adenosine Triphosphatases / genetics Cation Transport Proteins / genetics Codon, Nonsense / genetics Menkes Kinky Hair Syndrome / genetics Case Reports Research Support, N.I.H., Intramural Cells, Cultured Copper-Transporting ATPases DNA Mutational Analysis Fibroblasts / metabolism Fibroblasts / pathology Genetic Complementation Test / methods Humans Infant Magnetic Resonance Imaging Menkes Kinky Hair Syndrome / pathology Menkes Kinky Hair Syndrome / therapy Models, Molecular Peptide Chain Termination, Translational / genetics Cation Transport Proteins Codon, Nonsense Adenosine Triphosphatases ATP7A protein, human Copper-Transporting ATPases
PMC2917729
19194885
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease
2009