ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
Open Access
- 20 February 2008
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 16 (7), 812-819
- https://doi.org/10.1038/ejhg.2008.23
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Genotype–Phenotype Correlation in a German Family with a Novel Complex CRX Mutation Extending the Open Reading FrameOphthalmology, 2007
- Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.2001
- Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.2001
- Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemiasNature Reviews Genetics, 2001
- ABCR, the ATP-binding Cassette Transporter Responsible for Stargardt Macular Dystrophy, Is an Efficient Target of All-trans-retinal-mediated Photooxidative Damage in VitroJournal of Biological Chemistry, 2001
- Modifier genes in mice and humansNature Reviews Genetics, 2001
- Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod DystrophyAmerican Journal of Human Genetics, 2000
- A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular DegenerationAmerican Journal of Human Genetics, 2000
- ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophyNature Genetics, 2000
- An analysis of ABCR mutations in British patients with recessive retinal dystrophies.2000