CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
CCDC115 缺乏会导致高尔基体稳态紊乱和蛋白质糖基化异常
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.12.010
Jos C Jansen ,Sebahattin Cirak ,Monique van Scherpenzeel ,Sharita Timal ,Janine Reunert ,Stephan Rust ,Belén Pérez ,Dorothée Vicogne ,Peter Krawitz ,Yoshinao Wada ,Angel Ashikov ,Celia Pérez-Cerdá ,Celia Medrano ,Andrea Arnoldy ,Alexander Hoischen ,Karin Huijben ,Gerry Steenbergen ,Dulce Quelhas ,Luisa Diogo ,Daisy Rymen ,Jaak 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-Cécile 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 ,François Foulquier ,Thorsten Marquardt ,Dirk J Lefeber
