Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort

To clarify the genetic and clinical features of Japanese patients with ABCA4-associated retinopathy. Retrospective, multicenter cohort study. Patients with retinal degeneration and biallelic ABCA4 variants were recruited from 13 different hospitals. Whole exome sequencing analysis was used for genet...

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Veröffentlicht in:	American journal of ophthalmology 2024-08, Vol.264, p.36-43
Hauptverfasser:	Mizobuchi, Kei, Hayashi, Takaaki, Tanaka, Koji, Kuniyoshi, Kazuki, Murakami, Yusuke, Nakamura, Natsuko, Torii, Kaoruko, Mizota, Atsushi, Sakai, Daiki, Maeda, Akiko, Kominami, Taro, Ueno, Shinji, Kusaka, Shunji, Nishiguchi, Koji M, Ikeda, Yasuhiro, Kondo, Mineo, Tsunoda, Kazushige, Hotta, Yoshihiro, Nakano, Tadashi
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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