The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome

PURPOSE: To investigate functional consequence on photoreceptor-cell specific nuclear receptor (NR2E3) transcriptional activity of enhanced S-cone syndrome (ESCS) mutations localized in ligand binding domain (LBD). METHODS: Point mutations were introduced into the LBD of full length and Gal4 chimeri...

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Main Authors: Fradot, Mathias, Lorentz, Olivier, Wurtz, Jean-Marie, Sahel, José-Alain, Léveillard, Thierry
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2007
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2669504/
https://ncbi.nlm.nih.gov/pubmed/17438525
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