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37. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Antony D; Becker-Heck A; Zariwala MA; Schmidts M; Onoufriadis A; Forouhan M; Wilson R; Taylor-Cox T; Dewar A; Jackson C; Goggin P; Loges NT; Olbrich H; Jaspers M; Jorissen M; Leigh MW; Wolf WE; Daniels ML; Noone PG; Ferkol TW; Sagel SD; Rosenfeld M; Rutman A; Dixit A; O'Callaghan C; Lucas JS; Hogg C; Scambler PJ; Emes RD; ; Chung EM; Shoemark A; Knowles MR; Omran H; Mitchison HM Hum Mutat; 2013 Mar; 34(3):462-72. PubMed ID: 23255504 [TBL] [Abstract][Full Text] [Related]
38. Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice. Wang R; Yang D; Tu C; Lei C; Ding S; Guo T; Wang L; Liu Y; Lu C; Yang B; Ouyang S; Gong K; Tan Z; Deng Y; Tan Y; Qing J; Luo H Front Med; 2023 Oct; 17(5):957-971. PubMed ID: 37314648 [TBL] [Abstract][Full Text] [Related]
39. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Mitchison HM; Schmidts M; Loges NT; Freshour J; Dritsoula A; Hirst RA; O'Callaghan C; Blau H; Al Dabbagh M; Olbrich H; Beales PL; Yagi T; Mussaffi H; Chung EM; Omran H; Mitchell DR Nat Genet; 2012 Mar; 44(4):381-9, S1-2. PubMed ID: 22387996 [TBL] [Abstract][Full Text] [Related]
40. Genetic defects in ciliary structure and function. Zariwala MA; Knowles MR; Omran H Annu Rev Physiol; 2007; 69():423-50. PubMed ID: 17059358 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]