Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus
- 31 August 2001
- journal article
- Published by Elsevier in Ophthalmology
- Vol. 108 (8) , 1479-1484
- https://doi.org/10.1016/s0161-6420(01)00640-6
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids and retinoids and expression of its mRNA in extra-ocular human tissueBiochemical Journal, 1999
- Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 geneEuropean Journal of Human Genetics, 1998
- Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophyNature Genetics, 1997
- Mutations in RPE65 cause Leber's congenital amaurosisNature 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
- Primary Structure of Human 11-cisRetinol Dehydrogenase and Organization and Chromosomal Localization of the Corresponding GeneGenomics, 1996
- Short-chain dehydrogenases/reductases (SDR)Biochemistry, 1995
- Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindnessNature Genetics, 1993
- Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysisHuman Molecular Genetics, 1993