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
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.2013)
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