Associated Papers
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table9.xlsx › Blad1
Targeting of the NRL Pathway as a Therapeutic Strategy to Treat Retinitis Pigmentosa.
Moore SM et al.
Journal of Clinical Medicine, 2020
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Gao M et al.
Molecular Vision, 2016
Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
Borràs E et al.
Clinical Genetics, 2013
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Yang Y et al.
Investigative Ophthalmology & Visual Science, 2010
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
Kanda A et al.
Human Mutation, 2007
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