1 | CEP41, JBTS15 |
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | |
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. | |
Nat Genet 44(2):193-9. doi: 10.1038/ng.1078. 2012 | |