Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Nishiguchi, Koji M. ; Tearle, Richard G. ; Liu, Yangfan P. ; Oh, Edwin C. ; Miyake, Noriko ; Benaglio, Paola ; Harper, Shyana ; Koskiniemi-Kuendig, Hanna ; Venturini, Giulia ; Sharon, Dror ; Koenekoop, Robert K. ; Nakamura, Makoto ; Kondo, Mineo ; Ueno, Shinji ; Yasuma, Tetsuhiro R. ; Beckmann, Jacques S. ; Ikegawa, Shiro ; Matsumoto, Naomichi ; Terasaki, Hiroko ; Berson, Eliot L. ; Katsanis, Nicholas ; Rivolta, Carlo

Proceedings of the National Academy of Sciences - PNAS, 2013-10, Vol.110 (40), p.16139-16144 [Periódico revisado por pares]

United States: National Academy of Sciences

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