Associated Papers
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.
Gao FJ et al.
Acta Ophthalmologica, 2021
Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.
Heymann JB et al.
The Journal of Cell Biology, 2019
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.
Skorczyk A et al.
Molecular Vision, 2012
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.
Duncan JL et al.
Investigative Ophthalmology & Visual Science, 2011
Select a paper to view details