Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
- Author
- MITCHISON, Hannah M1 ; SCHMIDTS, Miriam1 ; BEALES, Philip L1 ; YAGI, Toshiki7 ; MUSSAFFI, Huda5 ; CHUNG, Eddie M. K8 ; OMRAN, Heymut2 ; MITCHELL, David R3 ; LOGES, Niki T2 ; FRESHOUR, Judy3 ; DRITSOULA, Athina1 ; HIRST, Rob A4 ; O'CALLAGHAN, Christopher4 ; BLAU, Hannah5 ; AL DABBAGH, Maha6 ; OLBRICH, Heike2
[1] Molecular Medicine Unit, University College London Institute of Child Health, London, United Kingdom
[2] Department of Pediatrics and Adolescent Medicine, University Hospital Muenster, Muenster, Germany
[3] Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, New York, United States
[4] Department of Infection, Immunity and Inflammation, University of Leicester, Leicester Royal Infirmary, Leicester, United Kingdom
[5] Pulmonary Unit, Schneider Children's Medical Center of Israel, Petah-Tikva, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
[6] Pulmonary Section, Department of Pediatrics, King Fahd Armed Forces Hospital, Jeddah, Saudi Arabia
[7] Department of Cell Biology and Anatomy, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
[8] General and Adolescent Paediatric Unit, University College London Institute of Child Health, London, United Kingdom - Source
Nature genetics. 2012, Vol 44, Num 4, pp 381-389, 9 p ; ref : 55 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dynein ATPase Moteur moléculaire Mutation Situs inversus Syndrome du cil immobile Enzyme Hydrolases Maladie congénitale Malformation Pathologie ORL Pathologie de l'appareil respiratoire
- Keyword (en)
- Dynein ATPase Molecular motor Mutation Situs inversus Immotile cilia syndrome Enzyme Hydrolases Congenital disease Malformation ENT disease Respiratory disease
- Keyword (es)
- Dynein ATPase Motor molecular Mutación Inversión visceral Pestaña immóvil síndrome Enzima Hydrolases Enfermedad congénita Malformación ORL patología Aparato respiratorio patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25767236
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ng.1106 
https://dx.doi.org/10.1038/ng.1106
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