Scientific Newsletter
Mutations of the Cellular Retinaldehyde-binding Protein (RLBP1/CRAlBP) Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Cellular Retinaldehyde-binding Protein (RLBP1/CRAlBP) Gene |
Recent update from: 04.08.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Mutation map |
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Map |
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| ARRP | Arg 150 Glu | CGG-CAG | 4763 | 5 | Homozygous |
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180090-0001 | (1) | |
| Polymorphism | 853G-A | G-A | 0853 | 2 |
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(1) | |
| Polymorphism | 2736A-C | A-C | 2736 | 4 |
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(1) |
References
1. Maw, M.A., Kennedy, B., Knight, A., Bridges, R., Roth, K.E., Mani, E.J., Mukkadan, J.K., Nancarrow, D., Crabb, J.W., and Denton, M.J. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 1997; Nat.Genet. 17: 198 - 200.
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Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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