Scientific Newsletter
Mutations of the USH2a Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the USH2a Gene |
Recent update from: 05.08.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| USH2A | 2314delG | del G | 2314 |
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(1) | ||
| USH2A | 2913delG | del G | 2913 |
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(1) | ||
| USH2A | 4353delCT | del CT | 4353 |
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(1) |
References
1. Eudy, J.D., Weston, M.D., Yao, S., Hoover, D.M., Rehm, H.L., Ma Edmonds, M., Yan, D., Ahmad, I., Cheng, J.J., Ayuso, C., Cremers, C., Davenport, S., Moller, C., Talmadge, C.B., Beisel, K.W., Tamayo, M., Morton, C.C., Swaroop, A., Kimberling, W.J., and Sumegi, J. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 1998; Science. 280: 1753 - 1757.
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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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