Scientific Newsletter
Mutations of the Second Mitochondrial Serine tRNA Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Second Mitochondrial Serine tRNA Gene |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
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| RP and Sensorineural Hearing Loss | A12258A | C-A | 12258 | mt |
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(1) |
References
1. Mansergh, F.C., Millington-Ward, S., Kennan, A., Kiang, A.S., Humphries, M., Farrar, G.J., Humphries, P., and Kenna, P.F. Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene. 1999; Am.J.Hum.Genet. 64: 971 - 985.
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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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