A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

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Figure 1: Identification of NRL mutation.
Figure 2: Effect of the S50T mutation on NRL-mediated transactivation of RHO promoter activity in CV1 cells.

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Acknowledgements

We thank family members for their participation. D.A.R.B. and A.M.P. are supported by the Medical Research Council of the U.K. (grant no. G9301094) and Q.-L.W. is a recipient of a Knights Templar Foundation fellowship. This research was supported by grants from the National Institutes of Health (EY11115, EY09769), the Foundation Fighting Blindness, Research to Prevent Blindness, The Rebecca P. Moon, Charles M. Moon Jr and Dr P. Thomas Manchester Research Fund, and the Mrs Harry J. Duffey AMD Research Fund. A.S. is a recipient of the Lew R. Wasserman Merit Award and D.J.Z. a Career Development Award, both from Research to Prevent Blindness.

Author information

Correspondence to Anand Swaroop or Shomi S. Bhattacharya.

Additional information

Department of Human Genetics, W.K. Kellogg Eye Centre, University of Michigan, Ann Arbor, Michigan, USA

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