Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein
- 30 April 2004
- Vol. 83 (4), 615-625
- https://doi.org/10.1016/j.ygeno.2003.10.004
Abstract
No abstract availableKeywords
This publication has 43 references indexed in Scilit:
- X-Linked Recessive Atrophic Macular Degeneration from RPGR MutationGenomics, 2002
- DSPP mutation in dentinogenesis imperfecta Shields type IINature Genetics, 2001
- Autosomal dominant Star ardt-hke macular dystrophy segregating in a large Canadian familyCanadian Journal of Ophthalmology, 2000
- A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophyNature Genetics, 1999
- Identification of the gene responsible for Best macular dystrophyNature Genetics, 1998
- A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophyNature Genetics, 1997
- Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophyNature Genetics, 1994
- Clinical Features of a Stargardt-Like Dominant Progressive Macular Dystrophy With Genetic Linkage to Chromosome 6qArchives of Ophthalmology (1950), 1994
- Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophyNature Genetics, 1993
- THE FRAMINGHAM EYE STUDYAmerican Journal of Epidemiology, 1977