Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Brotati Veraitch"'
Autor:
Kinga M. Bujakowska, Mai M. Abd El-Aziz, Shomi S. Bhattacharya, James S. Friedman, Bernd Wissinger, Wendy A. Bickmore, Christina Chakarova, Cécilia Maubaret, Brotati Veraitch, Eberhart Zrenner, Myrto Papaioannou, Torsten Theis, Christian P. Hamel, Andreas Gal, Peter M. G. Munro, Amna Z. Shah, Hemant Khanna, De Quincy C. Prescott, Anand Swaroop, Irma Lopez, Karl Matter, Valeria Marigo, Naushin Waseem, Sunil K. Parapuram, Robert K. Koenekoop, Chris P. Ponting
Publikováno v:
The American Journal of Human Genetics. 81:1098-1103
We report mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31). A positional-cloning approach, together with the use of bioinfor
Autor:
Neil D. Ebenezer, Alison J. Hardcastle, Petra Liskova, Katerina Jirsova, Stephen J. Tuft, Ales Neuwirth, Martin Filipec, Pirro G. Hysi, Brotati Veraitch, Shomi S. Bhattacharya
Publikováno v:
British Journal of Ophthalmology. 92:265-267
Aims: To characterise the role of the carbohydrate sulfotransferase gene ( CHST6 ) in macular corneal dystrophy (MCD) in Czech patients. Methods: The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members fr