Genotype–Phenotype Correlation in a German Family with a Novel Complex CRX Mutation Extending the Open Reading Frame
- 31 July 2007
- journal article
- case report
- Published by Elsevier in Ophthalmology
- Vol. 114 (7), 1348-1357.e1
- https://doi.org/10.1016/j.ophtha.2006.10.034
Abstract
No abstract availableKeywords
This publication has 41 references indexed in Scilit:
- Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development.Human Molecular Genetics, 2001
- The Leucine Zipper of NRL Interacts with the CRX HomeodomainJournal of Biological Chemistry, 2000
- Retinopathy and attenuated circadian entrainment in Crx-deficient miceNature Genetics, 1999
- A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRXProceedings of the National Academy of Sciences, 1998
- Standard for clinical electroretinography (1999 update)Documenta Ophthalmologica, 1998
- Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor DegenerationNeuron, 1997
- Crx, a Novel Otx-like Paired-Homeodomain Protein, Binds to and Transactivates Photoreceptor Cell-Specific GenesNeuron, 1997
- Crx, a Novel otx-like Homeobox Gene, Shows Photoreceptor-Specific Expression and Regulates Photoreceptor DifferentiationCell, 1997
- Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene () Essential for Maintenance of the PhotoreceptorCell, 1997
- A simple salting out procedure for extracting DNA from human nucleated cellsNucleic Acids Research, 1988