Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
- Author
- BECH-HANSEN, N. T1 ; NAYLOR, M. J1 ; MAYBAUM, T. A1 ; PEARCE, W. G1 2 ; KOOP, B3 ; FISHMAN, G. A4 ; METS, M5 ; MUSARELLA, M. A6 7 ; BOYCOTT, K. M1
[1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, T2N 4N1, Canada
[2] Department of Ophthalmology, University of Alberta, Edmonton, Alberta, T6G 2G3, Canada
[3] Department of Biology, University of Victoria, Victoria, British Columbia, V8W 2Y2, Canada
[4] Department of Ophthalmology, University of Illinois, Chicago, Illinois 60612, United States
[5] Department of Ophthalmology, Children's Memorial Hospital, Chicago, Illinois 60614, United States
[6] Departments of Ophthalmology, University of Toronto, Toronto, Ontario, Canada
[7] Long Island College Hospital, Brooklyn, New York 11201, United States - Source
Nature genetics. 1998, Vol 19, Num 3, pp 264-267 ; ref : 34 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Calcium ion Canal ionique Carte génétique Chromosome X Condition stationnaire Cécité Expression génique Gène Homme Homologie Héméralopie Mutation cadre lecture Mutation Rétine Séquence nucléotide Maladie congénitale Maladie héréditaire Oeil pathologie Trouble vision
- Keyword (en)
- Calcium ion Ionic channel Genetic mapping X-Chromosome Stationary condition Blindness Gene expression Gene Human Homology Night blindness Frameshift mutation Mutation Retina Nucleotide sequence Congenital disease Genetic disease Eye disease Vision disorder
- Keyword (es)
- Calcio ión Canal iónico Mapa genético Cromosoma X Condición estacionaria Ceguera Expresión genética Gen Hombre Homología Ceguera nocturna Mutación frameshift Mutación Retina Secuencia nucleótido Enfermedad congénita Enfermedad hereditaria Ojo patología Trastorno visión
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09K Vision disorders
- Discipline
- Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2324132
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
10.1038/947 
https://dx.doi.org/10.1038/947
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