Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

“Autosomal dominant retinitis pigmentosa” (adRP) refers to a genetically heterogeneous group of retinal dystrophies, in which 54% of all cases can be attributed to 17 disease loci. Here, we describe the localization and identification of the photoreceptor cell-specific nuclear receptor gene NR2E3 as...

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Main Authors: Coppieters, Frauke , Leroy, Bart P. , Beysen, Diane , Hellemans, Jan , De Bosscher, Karolien , Haegeman, Guy , Robberecht, Kirsten , Wuyts, Wim , Coucke, Paul J. , De Baere, Elfride 
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Human Genetics 2007
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950922/
https://ncbi.nlm.nih.gov/pubmed/17564971
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