ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition
ARL3 突变通过破坏纤毛蛋白组成导致乔伯特综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.08.015
Sumaya Alkanderi, Elisa Molinari, Ranad Shaheen, Yasmin Elmaghloob, Louise A Stephen, Veronica Sammut, Simon A Ramsbottom, Shalabh Srivastava, George Cairns, Noel Edwards, Sarah J Rice, Nour Ewida, Amal Alhashem, Kathryn White, Colin G Miles, David H Steel, Fowzan S Alkuraya, Shehab Ismail, John A S