Associated Papers
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.
Beryozkin A et al.
Frontiers in Cell and Developmental Biology, 2021
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
Audo I et al.
Orphanet Journal of Rare Diseases, 2012
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Fernández-Martínez L et al.
European Journal of Human Genetics : Ejhg, 2011
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E et al.
Investigative Ophthalmology & Visual Science, 2007
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