Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
- 1 January 1998
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 18 (1) , 11-12
- https://doi.org/10.1038/ng0198-11
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophyNature Genetics, 1997
- Mutation of the gene encoding cellular retinaldehyde–binding protein in autosomal recessive retinitis pigmentosaNature Genetics, 1997
- Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular DegenerationScience, 1997
- Stargardt's ABCR is localized to the disc membrane of retinal rod outer segmentsNature Genetics, 1997
- The 220-kDa Rim Protein of Retinal Rod Outer Segments Is a Member of the ABC Transporter SuperfamilyJournal of Biological Chemistry, 1997
- A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophyNature Genetics, 1997
- A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21Genomics, 1997
- Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6pHuman Molecular Genetics, 1994
- Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathiesNeuron, 1992
- Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration.The Journal of cell biology, 1992