A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

Koji Nishiguchi et al. identify three genetic variants within the EYS gene that are associated with retinitis pigmentosa using a genome-wide association study. They demonstrate that one of these variants (G843E) causes retinal dysfunction in zebrafish, suggesting a causal role for EYS in retinitis p...

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Autores principales: Koji M. Nishiguchi, Fuyuki Miya, Yuka Mori, Kosuke Fujita, Masato Akiyama, Takashi Kamatani, Yoshito Koyanagi, Kota Sato, Toru Takigawa, Shinji Ueno, Misato Tsugita, Hiroshi Kunikata, Katarina Cisarova, Jo Nishino, Akira Murakami, Toshiaki Abe, Yukihide Momozawa, Hiroko Terasaki, Yuko Wada, Koh-Hei Sonoda, Carlo Rivolta, Tatsuhiko Tsunoda, Motokazu Tsujikawa, Yasuhiro Ikeda, Toru Nakazawa
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Biology (General)
QH301-705.5
Acceso en línea:https://doaj.org/article/9d3f7ffc3efc4b0488dd8995a4248a06
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