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Details on Person Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
| Class:Id | LiteratureReference:9968914 |
| _displayName | Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia |
| _timestamp | 2025-10-20 20:12:58 |
| author | [Person:9945666] Mitchison, Hannah M [Person:5617711] Schmidts, Miriam [Person:9960881] Loges, Niki T [Person:9968915] Freshour, Judy [Person:9968917] Dritsoula, Athina [Person:9968918] Hirst, Rob A [Person:9945649] O'Callaghan, Christopher [Person:9968916] Blau, Hannah [Person:9968913] Al Dabbagh, Maha [Person:5579034] Olbrich, Heike [Person:5623839] Beales, Philip L [Person:5637906] Yagi, Toshiki [Person:9961945] Mussaffi, Huda [Person:9945646] Chung, Eddie M K [Person:508567] Omran, H [Person:5625467] Mitchell, David R |
| created | [InstanceEdit:9968912] Rothfels, Karen, 2025-10-20 |
| journal | Nat Genet |
| pages | 381-9, S1-2 |
| pubMedIdentifier | 22387996 |
| title | Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia |
| volume | 44 |
| year | 2012 |
| (literatureReference) | [Reaction:9969515] DNAI1 binds DNAI2 [Homo sapiens] [Reaction:9969519] DNAI1:DNAI2 bind DNAI5 and DNAI9,DNAI11 [Homo sapiens] [Reaction:9969526] DNAI3:DNAI4:DNAI7 bind DNAH2 and DNAH10 [Homo sapiens] [RegulationReference:9976692] Positive regulation by 'DNAAF3 [cytosol]' Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia |
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