Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions

Por Renkema, G. H., Visser, G., Baertling, F., Wintjes, L. T., Wolters, V. M., van Montfrans, J., de Kort, G. A. P., Nikkels, P. G. J., van Hasselt, P. M., van der Crabben, S. N., Rodenburg, R. J. T.
Publicado no Hum Genet (2017)