Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants

PURPOSE: To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy. METHODS: Patients underwent comprehensive ophthalmic examinations that included electroretinography (ERG) after 30 min and 24 h of dark adaptation (DA). Disease-causing gen...

詳細記述

保存先:
書誌詳細
出版年:Mol Vis
主要な著者: Katagiri, Satoshi, Hosono, Katsuhiro, Hayashi, Takaaki, Kurata, Kentaro, Mizobuchi, Kei, Matsuura, Tomokazu, Yoshitake, Kazutoshi, Iwata, Takeshi, Nakano, Tadashi, Hotta, Yoshihiro
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2018
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5893010/
https://ncbi.nlm.nih.gov/pubmed/29681726
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