Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

The strictly regulated expression of most pleiotropic developmental control genes is critically dependent on the activity of long-range cis-regulatory elements. This was revealed by the identification of individuals with a genetic condition lacking coding-region mutations in the gene commonly associ...

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Detalhes bibliográficos
Main Authors: Bhatia, Shipra, Bengani, Hemant, Fish, Margaret, Brown, Alison, Divizia, Maria Teresa, de Marco, Riccardo, Damante, Guiseppe, Grainger, Robert, van Heyningen, Veronica, Kleinjan, Dirk A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3852925/
https://ncbi.nlm.nih.gov/pubmed/24290376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.10.028
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