Mutations in the dynein assembly factor PF22 (DNAAF3) cause primary ciliary dyskinesia with absent dynein arms

por Schmidts, M, Freshour, J, Loges, NT, Dritsoula, A, Antony, D, Hirst, RA, O’Callaghan, C, Blau, H, Olbrich, H, Yagi, T, Mussaffi, H, Chung, EMK, Omran, H, Mitchell, DR, Mitchison, H
Publicado 2012

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

por Antony, D, Becker-Heck, A, Forouhan, M, Schmidts, M, Onoufriadis, A, Shoemark, A, Dixon, M, Jackson, C, Goggin, P, Olbrich, H, O’Callaghan, C, Lucas, J, Hogg, C, Chung, EMK, Omran, H, Mitchison, HM
Publicado 2012

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

por Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H
Publicado 2015