A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3

PURPOSE: The photoreceptor-specific orphan nuclear receptor NR2E3 is a key regulator of transcriptional events during photoreceptor differentiation in mammalian retina. Mutations in NR2E3 are associated with enhanced S-cone syndrome and related retinal phenotypes that reveal characteristic excess of...

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Detalles Bibliográficos
Autores principales: Kanda, Atsuhiro, Swaroop, Anand
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773741/
https://www.ncbi.nlm.nih.gov/pubmed/19898638

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773741/
https://www.ncbi.nlm.nih.gov/pubmed/19898638

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