Scientific Newsletter
Mutations of the Retinol-binding Protein 4 Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Retinol-binding Protein 4 Gene |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Fundus xerophthalmicus | Ile 41 Asn |
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(1) | ||||
| Fundus xerophthalmicus | Gly 75 Asp |
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(1) |
References
1. Seeliger, M.W., Biesalski, H.K., Wissinger, B., Gollnick, H., Gielen, S., Frank, J., Beck, S., and Zrenner, E. Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 1999; Invest.Ophthalmol.Vis.Sci. 40: 3 - 11.
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This site is maintained and edited by
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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