Publication: Genotyping Microarray for CSNB-Associated Genes
Genotyping Microarray for CSNB-Associated Genes
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Zeitz, C., Labs, S., Lorenz, B., Forster, U., Üksti, J., Kroes, H. Y., De Baere, E., Leroy, B. P., Cremers, F. P. M., Wittmer, M., van Genderen, M. M., Sahel, J. A., Audo, I., Poloschek, C. M., Mohand-Said, S., Fleischhauer, J. C., Hüffmeier, U., Moskova-Doumanova, V., Levin, A. V., … Berger, W. (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology & Visual Science, 12, 5919–5926. https://doi.org/10.1167/iovs.09-3548
Abstract
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PURPOSE. Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements can discriminate clinical subgroups, the identification of the underlying genetic defects has been complicated for CSNB because ofgenetic heterogeneity, the uncertainty about the mode of inheritance, and time-consuming and costly mutation scanning and direct sequencing approaches. METHODS. To overcome these challenges and to generate a time- and cost-efficient mutation sc
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Creators (Authors)
- Zeitz, C
- Labs, S
- Lorenz, B
- Forster, U
- Kroes, H Y
- De Baere, E
- Leroy, B P
- Cremers, F P M
- Wittmer, M
- van Genderen, M M
- Sahel, J A
- Audo, I
- Poloschek, C M
- Mohand-Said, S
- Fleischhauer, J C
- Hüffmeier, U
- Moskova-Doumanova, V
- Levin, A V
- Hamel, C P
- Leifert, D
- Munier, F L
- Schorderet, D F
- Zrenner, E
- Friedburg, C
- Wissinger, B
- Kohl, S
- Berger, W
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Citations
Zeitz, C., Labs, S., Lorenz, B., Forster, U., Üksti, J., Kroes, H. Y., De Baere, E., Leroy, B. P., Cremers, F. P. M., Wittmer, M., van Genderen, M. M., Sahel, J. A., Audo, I., Poloschek, C. M., Mohand-Said, S., Fleischhauer, J. C., Hüffmeier, U., Moskova-Doumanova, V., Levin, A. V., … Berger, W. (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology & Visual Science, 12, 5919–5926. https://doi.org/10.1167/iovs.09-3548
