Article
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Scientific reports - 26 Mar 2020
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
Abstract excerpt
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 (EYS-RD), and to discover disease-associated variants with relatively high allele frequency (1%-10%) in a...
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