Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder

PURPOSE: To determine the clinical and genetic characteristics of patients with GUCY2D-associated retinal disorder (GUCY2D-RD). METHODS: Fifteen patients from 12 families with inherited retinal disorder (IRD) and harboring GUCY2D variants were ascertained from 730 Japanese families with IRD. Compreh...

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Veröffentlicht in:Transl Vis Sci Technol
Hauptverfasser: Liu, Xiao, Fujinami, Kaoru, Kuniyoshi, Kazuki, Kondo, Mineo, Ueno, Shinji, Hayashi, Takaaki, Mochizuki, Kiyofumi, Kameya, Shuhei, Yang, Lizhu, Fujinami-Yokokawa, Yu, Arno, Gavin, Pontikos, Nikolas, Sakuramoto, Hiroyuki, Kominami, Taro, Terasaki, Hiroko, Katagiri, Satoshi, Mizobuchi, Kei, Nakamura, Natsuko, Yoshitake, Kazutoshi, Miyake, Yozo, Li, Shiying, Kurihara, Toshihide, Tsubota, Kazuo, Iwata, Takeshi, Tsunoda, Kazushige
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Association for Research in Vision and Ophthalmology 2020
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7408927/
https://ncbi.nlm.nih.gov/pubmed/32821499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/tvst.9.6.2
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