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Absence of NR2E1 mutations in patients with aniridia
PURPOSE: Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible for the occurrence of certain congenital eye disorders in humans. To test this hypothesis, we screened NR2E1 for candidate mutations in patients with aniridia and other...
Autores principales: | Corso-Díaz, Ximena, Borrie, Adrienne E., Bonaguro, Russell, Schuetz, Johanna M., Rosenberg, Thomas, Jensen, Hanne, Brooks, Brian P., MacDonald, Ian M., Pasutto, Francesca, Walter, Michael A., Grønskov, Karen, Brooks-Wilson, Angela, Simpson, Elizabeth M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513187/ https://www.ncbi.nlm.nih.gov/pubmed/23213277 |
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