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...

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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2012
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3513187/
https://ncbi.nlm.nih.gov/pubmed/23213277
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