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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408927/
https://www.ncbi.nlm.nih.gov/pubmed/32821499
http://dx.doi.org/10.1167/tvst.9.6.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408927/
https://www.ncbi.nlm.nih.gov/pubmed/32821499
http://dx.doi.org/10.1167/tvst.9.6.2

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