Associated Papers
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.
Arai Y et al.
Journal of Ophthalmology, 2015
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Schorderet DF et al.
Human Mutation, 2009
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
Kanda A et al.
Molecular Vision, 2009
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
Bernal S et al.
Clinical Genetics, 2008
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
Coppieters F et al.
American Journal of Human Genetics, 2007
A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q.
Wang DY et al.
Investigative Ophthalmology & Visual Science, 2006
A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.
Pang CP et al.
Molecular Vision, 2006
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
Haider NB et al.
Nature Genetics, 2000
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