CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Cirak, Monique van Scherpenzeel, Sharita Timal, Janine Reunert, Stephan Rust, Belen Perez, Dorothee Vicogne, Peter Krawitz, Yoshinao Wada, Angel Ashikov, Celia Perez-Cerda, Celia Medrano, Andrea Arnoldy, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Dulce Quelhas, Luisa Diogo, Daisy RymenJaak Jaeken, Nathalie Guffon, David Cheillan, Lambertus P. van den Heuvel, Yusuke Maeda, Olaf Kaiser, Ulrike Schara, Patrick Gerner, Marjolein A. W. van den Boogert, Adriaan G. Holleboom, Marie-Cecile Nassogne, Etienne Sokal, Jody Salomon, Geert van den Bogaart, Joost P. H. Drenth, Martijn A. Huynen, Joris A. Veltman, Ron A. Wevers, Eva Morava, Gert Matthijs, Francois Foulquier, Thorsten Marquardt, Dirk J. Lefeber

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)
Original languageEnglish
Pages (from-to)310-321
JournalAmerican Journal of Human Genetics
Volume98
Issue number2
DOIs
Publication statusPublished - 4 Feb 2016

Cite this

Jansen, J. C., Cirak, S., van Scherpenzeel, M., Timal, S., Reunert, J., Rust, S., Perez, B., Vicogne, D., Krawitz, P., Wada, Y., Ashikov, A., Perez-Cerda, C., Medrano, C., Arnoldy, A., Hoischen, A., Huijben, K., Steenbergen, G., Quelhas, D., Diogo, L., ... Lefeber, D. J. (2016). CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. American Journal of Human Genetics, 98(2), 310-321. https://doi.org/10.1016/j.ajhg.2015.12.010