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Scientific Newsletter

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
RP and Sensorineural Hearing Loss A12258A C-A 12258 mt



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