Publication
Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
Christina F. Chakarova, Myrto G. Papaioannou, Hemant Khanna, Irma Lopez, Naushin Waseem, Amna Shah, Torsten Theis, James Friedman, Cecilia Maubaret, Kinga Bujakowska, Brotati Veraitch, Mai M. Abd El-Aziz, De Quincy Prescott, Sunil K. Parapuram, Wendy A. Bickmore, Peter M.G. Munro, Andreas Gal, Christian P. Hamel, Valeria Marigo, Chris P. Ponting, Bernd Wissinger, Eberhart Zrenner, Karl Matter, Anand Swaroop, Robert K. Koenekoop, Shomi S. Bhattacharya
The American Journal of Human Genetics, November 2007, Elsevier
DOI: 10.1086/521953