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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: Medina-Trillo, Cristina, Aroca-Aguilar, José-Daniel, Méndez-Hernández, Carmen-Dora, Morales, Laura, García-Antón, Maite, García-Feijoo, Julián, Escribano, Julio
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2016
Aiheet:
Linkit: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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