Molecular characteristics of four Japanese cases with KCNV2 retinopathy: Report of novel disease-causing variants

PURPOSE: To describe the molecular characteristics of four Japanese patients with cone dystrophy with supernormal rod responses (CDSRR). METHODS: Four individuals with a clinical and electrophysiological diagnosis of CDSRR were ascertained. The pathognomonic findings of the full-field electroretinog...

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Main Authors: Fujinami, Kaoru, Tsunoda, Kazushige, Nakamura, Natsuko, Kato, Yu, Noda, Toru, Shinoda, Kei, Tomita, Kaoru, Hatase, Tetsuhisa, Usui, Tomoaki, Akahori, Masakazu, Itabashi, Takeshi, Iwata, Takeshi, Ozawa, Yoko, Tsubota, Kazuo, Miyake, Yozo
格式: Artigo
語言:Inglês
出版: Molecular Vision 2013
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3718491/
https://ncbi.nlm.nih.gov/pubmed/23885164
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