A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene
- 1 November 1998
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 63 (5), 1307-1315
- https://doi.org/10.1086/302101
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosisNature Genetics, 1998
- A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRXProceedings of the National Academy of Sciences, 1998
- Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor DegenerationNeuron, 1997
- Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS GeneArchives of Ophthalmology (1950), 1996
- From fly head to mammalian forebrain: the story of otd and OtxTrends in Genetics, 1994
- Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degenerationHuman Molecular Genetics, 1994
- Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin geneotherHuman Molecular Genetics, 1994
- Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS GeneArchives of Ophthalmology (1950), 1993
- Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophyNature Genetics, 1993
- Dominant cone-rod dystrophyDocumenta Ophthalmologica, 1975