CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
CC2D2A 在 Joubert 综合征中发生突变,并与纤毛病相关的基体蛋白 CEP290 相互作用。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2008.10.002
Gorden, Nicholas T; Arts, Heleen H; Parisi, Melissa A; Coene, Karlien L M; Letteboer, Stef J F; van Beersum, Sylvia E C; Mans, Dorus A; Hikida, Abigail; Eckert, Melissa; Knutzen, Dana; Alswaid, Abdulrahman F; Ozyurek, Hamit; Dibooglu, Sel; Otto, Edgar A; Liu, Yangfan; Davis, Erica E; Hutter, Carolyn M; Bammler, Theo K; Farin, Frederico M; Dorschner, Michael; Topçu, Meral; Zackai, Elaine H; Rosenthal, Phillip; Owens, Kelly N; Katsanis, Nicholas; Vincent, John B; Hildebrandt, Friedhelm; Rubel, Edwin W; Raible, David W; Knoers, Nine V A M; Chance, Phillip F; Roepman, Ronald; Moens, Cecilia B; Glass, Ian A; Doherty, Dan