Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

Biallelic variants in the EYS gene are a major cause of autosomal recessive inherited retinal disease (IRD), with a high prevalence in the Asian population. The purpose of this study was to identify pathogenic EYS variants, to determine the clinical/genetic spectrum of EYS-associated retinal disease...

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Veröffentlicht in:Sci Rep
Hauptverfasser: Yang, Lizhu, Fujinami, Kaoru, Ueno, Shinji, Kuniyoshi, Kazuki, Hayashi, Takaaki, Kondo, Mineo, Mizota, Atsushi, Naoi, Nobuhisa, Shinoda, Kei, Kameya, Shuhei, Fujinami-Yokokawa, Yu, Liu, Xiao, Arno, Gavin, Pontikos, Nikolas, Kominami, Taro, Terasaki, Hiroko, Sakuramoto, Hiroyuki, Katagiri, Satoshi, Mizobuchi, Kei, Nakamura, Natsuko, Mawatari, Go, Kurihara, Toshihide, Tsubota, Kazuo, Miyake, Yozo, Yoshitake, Kazutoshi, Iwata, Takeshi, Tsunoda, Kazushige
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2020
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7099090/
https://ncbi.nlm.nih.gov/pubmed/32218477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-62119-3
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