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

The genetic basis of Japanese autosomal recessive retinitis pigmentosa (ARRP) remains largely unknown. Herein, we applied a 2-step genome-wide association study (GWAS) in 640 Japanese patients. Meta-GWAS identified three independent peaks at P < 5.0 × 10(−8), all within the major ARRP gene EYS. T...

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Detalles Bibliográficos
Autores principales:	Nishiguchi, Koji M., Miya, Fuyuki, Mori, Yuka, Fujita, Kosuke, Akiyama, Masato, Kamatani, Takashi, Koyanagi, Yoshito, Sato, Kota, Takigawa, Toru, Ueno, Shinji, Tsugita, Misato, Kunikata, Hiroshi, Cisarova, Katarina, Nishino, Jo, Murakami, Akira, Abe, Toshiaki, Momozawa, Yukihide, Terasaki, Hiroko, Wada, Yuko, Sonoda, Koh-Hei, Rivolta, Carlo, Tsunoda, Tatsuhiko, Tsujikawa, Motokazu, Ikeda, Yasuhiro, Nakazawa, Toru
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846782/ https://www.ncbi.nlm.nih.gov/pubmed/33514863 http://dx.doi.org/10.1038/s42003-021-01662-9

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