Associated Papers
Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.
Pindwarawala M et al.
Life Science Alliance, 2025
Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M et al.
Ophthalmology. Retina, 2024
38522615 (PubMed )
Supplement: mmc11.pdf
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
The mGluR6 ligand-binding domain, but not the C-terminal domain, is required for synaptic localization in retinal ON-bipolar cells.
Agosto MA et al.
The Journal of Biological Chemistry, 2021
34793838 (PubMed )
Supplement: mmc1.pdf
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
Sergouniotis PI et al.
Acta Ophthalmologica, 2012
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