ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius AdamsJulia Vodopiutz, Susanne Greber-Platzer, Thomas Mueller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)
Original languageEnglish
Article number11600
JournalNature Communications
Volume7
DOIs
Publication statusPublished - May 2016

Cite this

Jansen, E. J. R., Timal, S., Ryan, M., Ashikov, A., van Scherpenzeel, M., Graham, L. A., Mandel, H., Hoischen, A., Iancu, T. C., Raymond, K., Steenbergen, G., Gilissen, C., Huijben, K., van Bakel, N. H. M., Maeda, Y., Rodenburg, R. J., Adamowicz, M., Crushell, E., Koenen, H., ... Lefeber, D. J. (2016). ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nature Communications, 7, [11600]. https://doi.org/10.1038/ncomms11600