The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
- Author
- PUSCH, Carsten M1 ; ZEITZ, Christina2 ; ANDREASSON, Sten6 ; HARDCASTLE, Alison7 ; WISSINGER, Bernd1 ; BERGER, Wolfgang2 ; MEINDL, Alfons3 ; BRANDAU, Oliver3 ; PESCH, Katrin1 ; ACHATZ, Helene3 ; FEIL, Silke2 ; SCHARFE, Curt3 ; MAURER, Johannes1 ; JACOBI, Felix K4 ; PINCKERS, Alfred5
Department of Experimental Pathology, Lund University, Lund, Sweden
[1] Molekulargenctisches Labor, Universitäts-Augenklinik, Tübingen, Germany
[2] Max-Planck Institut für Molekulare Genetik, Berlin, Germany
[3] Abteilung für Pädiatrische Genetik der LMU, München, Germany
[4] Universitäts-Augenklinik Abt. II, Tübingen, Germany
[5] University Hospital Nijmegen, Netherlands
[6] Department of Ophthalmology, University Hospital Lund, Lund, Sweden
[7] Institute of Ophthalmology, University College, London, United Kingdom - Source
Nature genetics. 2000, Vol 26, Num 3, pp 324-327 ; ref : 28 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Carte génétique Carte physique Chromosome X Congénital Etude cas Expression génique Homme Homologie Héméralopie Multigène Mutation Protéoglycane Séquence nucléotide Gène NYX Nyctalopine Séquence répétée riche leucine Maladie héréditaire Oeil pathologie Trouble vision
- Keyword (en)
- Genetic mapping Physical map X-Chromosome Congenital Case study Gene expression Human Homology Night blindness Multigene family Mutation Proteoglycan Nucleotide sequence Genetic disease Eye disease Vision disorder
- Keyword (es)
- Mapa genético Mapa físico Cromosoma X Congénito Estudio caso Expresión genética Hombre Homología Ceguera nocturna Multigén Mutación Proteoglicano Secuencia nucleótido 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
- 831793
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
10.1038/81627 
https://dx.doi.org/10.1038/81627
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