Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
- Author
- COPPIETERS, Frauke1 ; LEROY, Bart P1 2 ; BEYSEN, Diane1 ; HELLEMANS, Jan1 ; DE BOSSCHER, Karolien3 ; HAEGEMAN, Guy3 ; ROBBERECHT, Kirsten2 ; WUYTS, Wim4 ; COUCKE, Paul J1 ; DE BAERE, Elfride1
[1] Center for Medical Genetics, Ghent University, Ghent, Belgium
[2] Department of Ophthalmology, Ghent University, Ghent, Belgium
[3] Laboratory for Eukaryotic Gene Expression and Signal Transduction (LEGEST), Department of Molecular Biology, Ghent University, Ghent, Belgium
[4] Center for Medical Genetics, Antwerp, Belgium - Source
American journal of human genetics. 2007, Vol 81, Num 1, pp 147-157, 11 p ; ref : 35 ref
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractère autosomique Caractère dominant Génétique Homme Maladie héréditaire Motif structural Mutation Récepteur nucléaire Récepteur orphelin Récidivant Récidive Rétinite pigmentaire Oeil pathologie Rétinopathie
- Keyword (en)
- Autosomal character Dominant character Genetics Human Genetic disease Structural unit Mutation Nuclear receptor Orphan receptor Recurrent Relapse Retinitis pigmentosa Eye disease Retinopathy
- Keyword (es)
- Carácter autosómico Carácter dominante Genética Hombre Enfermedad hereditaria Motivo estructural Mutación Receptor nuclear Receptor huérfano Recidivante Recaida Retinitis pigmentaria Ojo patología Retinopatía
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- 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 / 002B09 Ophthalmology / 002B09I Retinopathies
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18898498
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
10.1086/518426 
https://dx.doi.org/10.1086/518426
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