CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
CCDC103基因突变通过破坏纤毛动力蛋白臂的组装而导致原发性纤毛运动障碍。
期刊:Nature Genetics
影响因子:29
doi:10.1038/ng.2277
Panizzi, Jennifer R; Becker-Heck, Anita; Castleman, Victoria H; Al-Mutairi, Dalal A; Liu, Yan; Loges, Niki T; Pathak, Narendra; Austin-Tse, Christina; Sheridan, Eamonn; Schmidts, Miriam; Olbrich, Heike; Werner, Claudius; Häffner, Karsten; Hellman, Nathan; Chodhari, Rahul; Gupta, Amar; Kramer-Zucker, Albrecht; Olale, Felix; Burdine, Rebecca D; Schier, Alexander F; O'Callaghan, Christopher; Chung, Eddie M K; Reinhardt, Richard; Mitchison, Hannah M; King, Stephen M; Omran, Heymut; Drummond, Iain A