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Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences

Primary congenital glaucoma (PCG) is the cause of a significant proportion of inherited visual loss in children, but the underlying mechanism is poorly understood. In this study, we assessed the relationship between PCG and FOXC1 variants by Sanger sequencing the proximal promoter and transcribed se...

詳細記述

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書誌詳細
出版年:Eur J Hum Genet
主要な著者: Medina-Trillo, Cristina, Aroca-Aguilar, José-Daniel, Méndez-Hernández, Carmen-Dora, Morales, Laura, García-Antón, Maite, García-Feijoo, Julián, Escribano, Julio
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4930079/
https://ncbi.nlm.nih.gov/pubmed/26220699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.169
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