An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
- Author
- STROM, T. M1 ; NYAKATURA, G2 ; SAUER, C5 ; ZRENNER, E3 ; MEITINGER, T1 ; ROSENTHAL, A2 ; MEINDL, A1 ; APFELSTEDT-SYLLA, E3 ; HELLEBRAND, H1 ; LORENZ, B4 ; WEBER, B. H. F5 ; WUTZ, K1 ; GUTWILLINGER, N1 ; RÜTHER, K3 ; DRESCHER, B2
[1] Abteilung Medizinische Genetik der Ludwig-Maximilians-Universität, Goethestr. 29, 80336 München, Germany
[2] Institut für Molekulare Biotechnologie, Am Beutenberg 11, 07745 Jena, Germany
[3] Augenklinik der Universität, 72076 Tübingen, Germany
[4] Ophthalmogenetik der Augenklinik der Universität, 93042 Regensburg, Germany
[5] Institut für Humangenetik, Am Hubland, 97074 Würzburg, Germany - Source
Nature genetics. 1998, Vol 19, Num 3, pp 260-263 ; ref : 26 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
- 2324140
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
10.1038/940 
https://dx.doi.org/10.1038/940
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