Fol. Biol. 2017, 63, 165-173

https://doi.org/10.14712/fb2017063050165

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease

L. Králík1, E. Flachsová1, H. Hansíková1, V. Saudek2, J. Zeman1, Pavel Martásek1

1Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
2Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge Metabolic Research Laboratories, Cambridge, United Kingdom

Received October 2017
Accepted January 2018

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