C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.
C21ORF2 突变提示肌萎缩侧索硬化症中存在原发性纤毛功能障碍
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awae331
De Decker Mathias, Zelina Pavol, Moens Thomas G, Beckers Jimmy, Contardo Matilde, Dittlau Katarina Stoklund, Van Schoor Evelien, Ronisz Alicja, Eggermont Kristel, Moisse Matthieu, Chandran Siddharthan, Veldink Jan H, Thal Dietmar Rudolf, Van Den Bosch Ludo, Pasterkamp R Jeroen, Van Damme Philip