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1. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

Author

Kalay, E., de Brouwer, A.P.M., Caylan, R., Nabuurs, S.B., Wollnik, B., Karaguzel, A., Heister, J.G.A.M., Erdol, H., Cremers, F.P.M., Cremers, C.W.R.J., Brunner, H.G., and Kremer, H.

Subjects
Retinal degeneration -- Research, Retinal degeneration -- Analysis, Deafness -- Research, Deafness -- Analysis, Hearing disorders -- Research, Hearing disorders -- Analysis, Science and technology
Published
2005

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