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
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
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
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
Genotyping microarray for CSNB-associated genes.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2009
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