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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




(1)
USH2A 2913delG del G 2913




(1)
USH2A 4353delCT del CT 4353




(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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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