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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...

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Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Main Authors: Medina-Trillo, Cristina, Aroca-Aguilar, José-Daniel, Méndez-Hernández, Carmen-Dora, Morales, Laura, García-Antón, Maite, García-Feijoo, Julián, Escribano, Julio
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
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Acceso en liña: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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