Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical findings in Japanese patients. Methods: In total, 607 pa...

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書誌詳細
出版年:J Clin Med
主要な著者: Mizobuchi, Kei, Hayashi, Takaaki, Oishi, Noriko, Kubota, Daiki, Kameya, Shuhei, Higasa, Koichiro, Futami, Takuma, Kondo, Hiroyuki, Hosono, Katsuhiro, Kurata, Kentaro, Hotta, Yoshihiro, Yoshitake, Kazutoshi, Iwata, Takeshi, Matsuura, Tomokazu, Nakano, Tadashi
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2021
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8197273/
https://ncbi.nlm.nih.gov/pubmed/34073704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm10112265
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