A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in stargardt disease and age-related macular degeneration
- Author
- RIVERA, Andrea1 ; WHITE, Karen1 ; WEBER, Bernhard H. F1 ; STÖHR, Heidi1 ; STEINER, Klaus1 ; HEMMRICH, Nadine1 ; GRIMM, Timo1 ; JURKLIES, Bernhard2 ; LORENZ, Birgit3 ; SCHOLL, Hendrik P. N4 ; APFELSTEDT-SYLLA, Eckhart4
[1] Institut für Humangenetik, Universität Würzburg, Würzburg, Germany
[2] Augenklinik, Essen, Germany
[3] Klinikum der Universität, Regensburg, Germany
[4] Universitäts-Augenklinik, Tübingen, Germany - Source
American journal of human genetics. 2000, Vol 67, Num 4, pp 800-813 ; ref : 1 p.1/4
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Allèle Dégénérescence choriorétinienne héréditaire Stargardt Dégénérescence Déterminisme génétique Gène Génotype Homme Macula Mutation Pathogénie Photorécepteur Phénotype Transporteur ABC Variant génétique Vieillissement Maculopathie Maladie héréditaire Oeil pathologie Rétinopathie
- Keyword (en)
- Allele Stargardt chorioretinal degeneration Degeneration Genetic determinism Gene Genotype Human Macula Mutation Pathogenesis Photoreceptor Phenotype ABC transporter Genetic variant Ageing Maculopathy Genetic disease Eye disease Retinopathy
- Keyword (es)
- Alelo Degeneración coriorretiniana hereditaria Stargardt Degeneración Determinismo genético Gen Genotipo Hombre Mácula Mutación Patogenia Fotorreceptor Fenotipo Transportador ABC Variante genética Envejecimiento Maculopatía Enfermedad hereditaria Ojo patología Retinopatía
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09I Retinopathies
- Discipline
- Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1507392
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
10.1086/303090 
https://dx.doi.org/10.1086/303090
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